P26R (p.Pro26Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
P26R (p.Pro26Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- gnomAD 21-45981923-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available