L97P (p.Leu97Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
L97P (p.Leu97Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
L97P (p.Leu97Pro) variant details
- p.Leu97Pro
- Ensembl rs201127162
- Missense
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)