G1299V (p.Gly1299Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1299V (p.Gly1299Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull. The record also includes variant effect predictions and population frequency data.
G1299V (p.Gly1299Val) variant details
- p.Gly1299Val
- TOPMed rs1013368053
- gnomAD rs1013368053
- Likely pathogenic
- Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull
- Missense
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic congenital nail disorder 8; Recessive dystrophic ep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)