A22P (p.Ala22Pro) variant of HBA1 (Hemoglobin subunit alpha)
A22P (p.Ala22Pro) 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 FONTAINEBLEAU. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- rs34324664
- ClinGen CA125723
- ClinVar RCV000017020
- UniProt VAR 002742
- other
- HEMOGLOBIN FONTAINEBLEAU
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.57
- MetaLR 0.65
- MetaSVM -0.10
- CADD 14.60
- PolyPhen-2 0.33
- SIFT 0.06
- ClinVar: other (HEMOGLOBIN FONTAINEBLEAU)
- EBI: Benign (in Fontainebleau)
- UniProt: Benign (in Fontainebleau)
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available
- Cited in: Hb Fontainebleau [alpha 21(B2)Ala----pro], a new silent mutant hemoglobin. (PMID 2599878)