A4V (p.Ala4Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
A4V (p.Ala4Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 21-45981861-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.13
- MetaLR 0.40
- MetaSVM -0.70
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available