A30V (p.Ala30Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
A30V (p.Ala30Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 21-45981939-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.33
- MetaLR 0.47
- MetaSVM -0.42
- CADD 20.60
- PolyPhen-2 0.45
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available