R46H (p.Arg46His) variant of ADD1 (Alpha-adducin)
R46H (p.Arg46His) in ADD1 (Alpha-adducin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs767055661
- NCI-TCGA Cosmic COSV5327
- cosmic curated COSV53271
- ExAC rs767055661
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.22
- MetaSVM -0.62
- CADD 33.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available