V41M (p.Val41Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
V41M (p.Val41Met) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
V41M (p.Val41Met) variant details
- p.Val41Met
- gnomAD rs1159664434
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available