P15R (p.Pro15Arg) variant of ADD1 (Alpha-adducin)
P15R (p.Pro15Arg) in ADD1 (Alpha-adducin) is a protein-truncating 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.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- gnomAD 4-2875954-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.816
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available