A14V (p.Ala14Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
A14V (p.Ala14Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 21-45981891-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.34
- MetaLR 0.47
- MetaSVM -0.45
- CADD 21.90
- PolyPhen-2 0.58
- SIFT 0.92
- Population evidence available
- Structural context available
- Literature evidence available