A22D (p.Ala22Asp) variant of HBA1 (Hemoglobin subunit alpha)
A22D (p.Ala22Asp) 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 J (NYANZA). The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- rs11548605
- ClinGen CA125779
- ClinVar RCV000017067
- UniProt VAR 002741
- other
- HEMOGLOBIN J (NYANZA)
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.52
- MetaLR 0.73
- MetaSVM 0.01
- CADD 13.10
- PolyPhen-2 0.83
- SIFT 0.02
- ClinVar: other (HEMOGLOBIN J (NYANZA))
- EBI: Benign (in J-Nyanza)
- UniProt: Benign (in J-Nyanza)
- Population evidence available
- Structural context available
- Cited in: Haemoglobin J Nyanza: 21 (B2) Ala-Asp. (PMID 4719146)