K12Q (p.Lys12Gln) variant of HBA1 (Hemoglobin subunit alpha)
K12Q (p.Lys12Gln) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN WUMING; HEMOGLOBIN J (WENCHANG-WUMING). The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
K12Q (p.Lys12Gln) variant details
- p.Lys12Gln
- rs33938574
- ClinGen CA125917
- ClinVar RCV000017174
- ClinVar RCV000017175
- other
- HEMOGLOBIN WUMING; HEMOGLOBIN J (WENCHANG-WUMING)
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.68
- SIFT 0.01
- MutPred 0.63
- ClinVar: other (HEMOGLOBIN WUMING; HEMOGLOBIN J (WENCHANG-WUMING))
- UniProt: Other (in Anantharaj)
- Structural context available
- Cited in: Hb Wuming or alpha 2 11(A9)Lys substituting for Gln beta 2. (PMID 7338470)
- Cited in: Hb J-Wenchang-Wuming or alpha 11(A9)Lys-->Gln in an Italian woman. (PMID 8537231)