A30D (p.Ala30Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
A30D (p.Ala30Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 21-45981939-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.30
- MetaLR 0.53
- MetaSVM -0.23
- CADD 21.20
- PolyPhen-2 0.72
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available