A4S (p.Ala4Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A4S (p.Ala4Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 21-45981860-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.15
- MetaLR 0.40
- MetaSVM -0.73
- CADD 10.60
- PolyPhen-2 0.02
- SIFT 0.59
- Population evidence available
- Structural context available
- Literature evidence available