A12V (p.Ala12Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
A12V (p.Ala12Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- ExAC rs749361700
- TOPMed rs749361700
- gnomAD rs749361700
- Missense
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 4.8e-05)