N10K (p.Asn10Lys) variant of HBA1 (Hemoglobin subunit alpha)
N10K (p.Asn10Lys) 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 DELFZICHT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
N10K (p.Asn10Lys) variant details
- p.Asn10Lys
- rs28928885
- ClinGen CA126005
- ClinVar RCV000017227
- gnomAD rs28928885
- other
- HEMOGLOBIN DELFZICHT
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.50
- MetaLR 0.63
- MetaSVM -0.15
- SIFT 0.00
- MutPred 0.96
- ClinVar: other (HEMOGLOBIN DELFZICHT)
- EBI: Variant of uncertain significance (in Broomfield)
- UniProt: Uncertain significance (in Broomfield)
- Structural context available
- Cited in: Hb delfzicht [alpha9(A7)Asn-->Lys (alpha1)]: a new, clinically silent hemoglobin variant observed in a Dutch patient. (PMID 12144062)