A3R (p.Ala3Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
A3R (p.Ala3Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A3R (p.Ala3Arg) variant details
- p.Ala3Arg
- gnomAD 21-45981854-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 22.10
- Population evidence available
- Structural context available
- Literature evidence available