R6H (p.Arg6His) variant of ADD1 (Alpha-adducin)
R6H (p.Arg6His) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs1731209577
- gnomAD 4-2875932-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.08
- ESM-1b 0.16
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -1.06
- CADD 22.90
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available