E122K (p.Glu122Lys) variant of HBB (Hemoglobin subunit beta)
E122K (p.Glu122Lys) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of METHEMOGLOBINEMIA, BETA TYPE; Dominant beta-thalassemia; Erythrocytosis, familia. 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.
E122K (p.Glu122Lys) variant details
- p.Glu122Lys
- rs33946267
- ClinGen CA125070
- ClinVar RCV000016524
- ClinVar RCV000016525
- other
- METHEMOGLOBINEMIA, BETA TYPE; Dominant beta-thalassemia; Erythrocytosis, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.53
- MetaLR 0.75
- MetaSVM 0.31
- CADD 22.00
- ClinVar: other (HEMOGLOBIN O (TIBESTI))
- EBI: Pathogenic (in O-Arab)
- UniProt: Pathogenic (in O-Arab)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Cited in: Hemoglobin S/O(Arab): thirteen new cases and review of the literature. (PMID 10203101)
- Cited in: Hb O-Tibesti [beta121(GH4)Glu-->Lys; beta11(A8)Val-->Ile], a hemoglobin variant carrying in the same beta chain the… (PMID 11939508)