E30D (p.Glu30Asp) variant of ADD1 (Alpha-adducin)
E30D (p.Glu30Asp) 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 0.22 / 1. The record also includes structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99296
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.11
- ESM-1b 0.03
- AlphaMissense 0.51
- MetaLR 0.19
- MetaSVM -0.82
- CADD 22.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available