R5V (p.Arg5Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
R5V (p.Arg5Val) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R5V (p.Arg5Val) variant details
- p.Arg5Val
- gnomAD 21-45981860-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available