A3S (p.Ala3Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A3S (p.Ala3Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 21-45981857-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.16
- MetaLR 0.36
- MetaSVM -0.75
- CADD 7.52
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available