G82E (p.Gly82Glu) variant of ADD1 (Alpha-adducin)
G82E (p.Gly82Glu) 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 0.58 / 1. The record also includes structural context.
G82E (p.Gly82Glu) variant details
- p.Gly82Glu
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99296
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.21
- MetaSVM -0.73
- CADD 29.40
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available