A30S (p.Ala30Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A30S (p.Ala30Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 21-45981938-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.27
- MetaLR 0.45
- MetaSVM -0.51
- CADD 14.70
- PolyPhen-2 0.37
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available