A28S (p.Ala28Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A28S (p.Ala28Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 21-45981932-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.18
- MetaLR 0.39
- MetaSVM -0.63
- CADD 15.50
- PolyPhen-2 0.14
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available