P43R (p.Pro43Arg) variant of ADD1 (Alpha-adducin)
P43R (p.Pro43Arg) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P43R (p.Pro43Arg) variant details
- p.Pro43Arg
- rs760207694
- gnomAD 4-2876043-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.26
- MetaSVM -0.52
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available