K17N (p.Lys17Asn) variant of HBA1 (Hemoglobin subunit alpha)
K17N (p.Lys17Asn) 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 BEIJING. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K17N (p.Lys17Asn) variant details
- p.Lys17Asn
- rs281860648
- ClinGen CA125684
- ClinVar RCV000016996
- UniProt VAR 002734
- other
- HEMOGLOBIN BEIJING
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- AlphaMissense 0.47
- MetaLR 0.81
- MetaSVM 0.74
- SIFT 0.00
- MutPred 0.84
- ClinVar: other (HEMOGLOBIN BEIJING)
- EBI: Benign (in Beijing)
- UniProt: Benign (in Beijing)
- Population evidence available
- Structural context available
- Cited in: Hemoglobin Beijing [alpha 16 (A14) Lys replaced by Asn]: a new fast-moving hemoglobin variant. (PMID 7161110)