E34D (p.Glu34Asp) variant of ADD1 (Alpha-adducin)
E34D (p.Glu34Asp) 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 0.18 / 1. The record also includes structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- NCI-TCGA Cosmic COSV5327
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99296
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -1.10
- CADD 12.04
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available