A6T (p.Ala6Thr) variant of COL6A1 (Collagen alpha-1(VI) chain)
A6T (p.Ala6Thr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 21-45981866-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.12
- MetaLR 0.41
- MetaSVM -0.71
- CADD 1.73
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available