E8D (p.Glu8Asp) variant of HBB (Hemoglobin subunit beta)
E8D (p.Glu8Asp) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- rs138405215
- NCI-TCGA Cosmic COSV5894
- cosmic curated COSV58942
- ESP rs138405215
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- ESM-1b 0.00
- AlphaMissense 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in G-Siriraj)
- UniProt: Uncertain significance (in G-Siriraj)
- Structural context available