V57A (p.Val57Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
V57A (p.Val57Ala) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- TOPMed rs1242317614
- gnomAD rs1242317614
- Missense
- CADD 27.70
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)