K41N (p.Lys41Asn) variant of HBA1 (Hemoglobin subunit alpha)
K41N (p.Lys41Asn) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as other in the context of HEMOGLOBIN SARATOGA SPRINGS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
K41N (p.Lys41Asn) variant details
- p.Lys41Asn
- rs281864471
- ClinVar RCV005410982
- Ensembl rs281864471
- other
- HEMOGLOBIN SARATOGA SPRINGS
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.01
- SIFT 0.00
- MutPred 0.93
- ClinVar: other (HEMOGLOBIN SARATOGA SPRINGS)
- EBI: Variant of uncertain significance (in Kanagawa)
- UniProt: Uncertain significance (in Kanagawa)
- Structural context available
- Cited in: Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb… (PMID 14649314)
- Cited in: ACOG Practice Bulletin No. 78: hemoglobinopathies in pregnancy. (PMID 17197616)