A96V (p.Ala96Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
A96V (p.Ala96Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
A96V (p.Ala96Val) variant details
- p.Ala96Val
- ExAC rs757123441
- gnomAD rs757123441
- Missense
- CADD 22.90
- PolyPhen-2 0.18
- SIFT 0.16
- Most common in the East Asian population (allele frequency 2.5e-05)