A37S (p.Ala37Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
A37S (p.Ala37Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- gnomAD rs2045936120
- Missense
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)