E23K (p.Glu23Lys) variant of HBB (Hemoglobin subunit beta)
E23K (p.Glu23Lys) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- rs33959855
- ClinGen CA124839
- cosmic curated COSV10884
- NCI-TCGA Cosmic COSV5894
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.52
- MetaSVM -0.44
- CADD 17.60
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Pathogenic (in E-Saskatoon)
- UniProt: Pathogenic (in E-Saskatoon)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient. (PMID 11791874)
- Cited in: Compound heterozygosity for Hb E-Saskatoon or alpha 2 beta 2(22)(B4)Glu----Lys and beta-thalassemia type IVS-I-6… (PMID 2283299)