A6V (p.Ala6Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
A6V (p.Ala6Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 21-45981867-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.14
- MetaLR 0.41
- MetaSVM -0.71
- CADD 7.19
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available