A19S (p.Ala19Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A19S (p.Ala19Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 21-45981905-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.10
- MetaLR 0.37
- MetaSVM -0.74
- CADD 9.30
- PolyPhen-2 0.03
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available