A30T (p.Ala30Thr) variant of COL6A1 (Collagen alpha-1(VI) chain)
A30T (p.Ala30Thr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD 21-45981938-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.22
- MetaLR 0.42
- MetaSVM -0.57
- CADD 14.80
- PolyPhen-2 0.03
- SIFT 0.61
- Population evidence available
- Structural context available
- Literature evidence available