E23G (p.Glu23Gly) variant of HBB (Hemoglobin subunit beta)
E23G (p.Glu23Gly) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E23G (p.Glu23Gly) variant details
- p.Glu23Gly
- rs33936254
- ClinGen CA124867
- ClinVar RCV000016356
- ClinVar RCV000756231
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.73
- MetaSVM 0.14
- CADD 18.90
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Benign (in G-Taipei)
- UniProt: Benign (in G-Taipei)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Hb G-Taipei or beta 22(B4)Glu----Gly in a Chinese family living in The Netherlands. (PMID 3623978)
- Cited in: Hemoglobin variant found in Koreans, Chinese, and North American Indians: alpha-2 beta-2 22 Glu Ala. (PMID 5791015)