A6S (p.Ala6Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A6S (p.Ala6Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 21-45981866-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.07
- MetaLR 0.41
- MetaSVM -0.70
- CADD 0.81
- PolyPhen-2 0.01
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available