R46P (p.Arg46Pro) variant of ADD1 (Alpha-adducin)
R46P (p.Arg46Pro) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R46P (p.Arg46Pro) variant details
- p.Arg46Pro
- gnomAD 4-2876052-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.62
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available