H21Q (p.His21Gln) variant of HBA1 (Hemoglobin subunit alpha)
H21Q (p.His21Gln) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H21Q (p.His21Gln) variant details
- p.His21Gln
- rs281864502
- ClinGen CA276416495
- ClinVar RCV001811609
- TOPMed rs281864502
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- AlphaMissense 0.12
- MetaLR 0.75
- MetaSVM 0.17
- SIFT 0.05
- MutPred 0.94
- ClinVar: Likely benign (not provided)
- EBI: Variant of uncertain significance (in Le Lamentin)
- UniProt: Uncertain significance (in Le Lamentin)
- Population evidence available
- Structural context available
- Cited in: Hb Le Lamentin or alpha 2 20(B1)His----GLN beta 2 found in a Spanish family. (PMID 3384713)
- Cited in: Hemoglobin Tokoname [alpha 139 (HC 1) Lys leads to Thr]: a new hemoglobin variant with a slightly increased oxygen… (PMID 6188720)