A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation

Table 1

TP63 variant (NM_003722.4:c.948G>A; p.Met316Ile) in a Chinese family with SHFM.

Gene	TP63
DNA change	NM_003722.4:c.948G>A (heterozygous)
Amino acid alteration	p.Met316Ile
Variant type	Missense
Allele frequency
1KGP	0
ExAC_all	0
gnomAD	0
Function prediction
MutationTaster	Disease causing (1.000)
PolyPhen-2	Probably damaging (0.937)
SIFT	Tolerated (0.074)

Abbreviations: SHFM: split-hand/foot malformation; 1KGP: 1000 Genomes Project; ExAC_all: all the data of Exome Aggregation Consortium; gnomAD: the Genome Aggregation Database.