K41E (p.Lys41Glu) variant of HBA1 (Hemoglobin subunit alpha)
K41E (p.Lys41Glu) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN KARIYA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
K41E (p.Lys41Glu) variant details
- p.Lys41Glu
- rs34492931
- ClinGen CA125799
- ClinVar RCV000017079
- Ensembl rs34492931
- other
- HEMOGLOBIN KARIYA
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 0.93
- MetaLR 0.86
- MetaSVM 0.90
- SIFT 0.00
- MutPred 0.87
- ClinVar: other (HEMOGLOBIN KARIYA)
- UniProt: Other (in Kanagawa)
- Structural context available
- Cited in: Structure-function relationships in hemoglobin Kariya, Lys-40(C5) alpha----Glu, with high oxygen affinity. Functional… (PMID 2500435)
- Cited in: Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen… (PMID 6188720)