V41A (p.Val41Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
V41A (p.Val41Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- gnomAD 21-45982658-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.87
- MetaLR 0.94
- MetaSVM 1.05
- CADD 31.00
- SIFT 0.00
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available
- Literature evidence available