E23A (p.Glu23Ala) variant of HBB (Hemoglobin subunit beta)
E23A (p.Glu23Ala) 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 specified; not provided; beta Thalassemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E23A (p.Glu23Ala) variant details
- p.Glu23Ala
- rs33936254
- ClinGen CA124853
- ClinVar RCV000016343
- ClinVar RCV000016344
- Conflicting interpretations
- not specified; not provided; beta Thalassemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.05
- MetaLR 0.60
- MetaSVM -0.25
- CADD 13.80
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; beta Thalassemia)
- EBI: Benign (in G-Coushatta/G-Saskatoon/G-Taegu/Hsin Chu)
- UniProt: Benign (in G-Coushatta/G-Saskatoon/G-Taegu/Hsin Chu)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Hemoglobin Baylor (alpha2beta281(EF5) leu replaced by Arg)--an unstable mutant with high oxygen affinity. (PMID 1052173)
- Cited in: Hb G-Coushatta or alpha 2 beta 222(B4)Glu----Ala in a Turkish male. (PMID 2703366)