A14S (p.Ala14Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A14S (p.Ala14Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 21-45981890-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.31
- MetaLR 0.43
- MetaSVM -0.48
- CADD 22.10
- PolyPhen-2 0.38
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available