A22S (p.Ala22Ser) variant of HBA1 (Hemoglobin subunit alpha)
A22S (p.Ala22Ser) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in Fontainebleau. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD rs281864817
- Uncertain significance
- in Fontainebleau
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.34
- MetaLR 0.64
- MetaSVM -0.15
- CADD 10.30
- PolyPhen-2 0.07
- SIFT 0.13
- EBI: Variant of uncertain significance (in Fontainebleau)
- UniProt: Uncertain significance (in Fontainebleau)
- Most common in the Non-Finnish European population (allele frequency 4e-06)
- Structural context available