E23D (p.Glu23Asp) variant of HBB (Hemoglobin subunit beta)
E23D (p.Glu23Asp) in HBB (Hemoglobin subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E23D (p.Glu23Asp) variant details
- p.Glu23Asp
- cosmic curated COSV58943
- Ensembl rs281864513
- cosmic curated COSV58942
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.57
- ESM-1b 0.39
- AlphaMissense 0.09
- MetaLR 0.41
- MetaSVM -0.73
- CADD 5.53
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available