A22T (p.Ala22Thr) variant of HBA1 (Hemoglobin subunit alpha)
A22T (p.Ala22Thr) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- ExAC rs34324664
- gnomAD rs34324664
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.46
- MetaLR 0.63
- MetaSVM -0.15
- CADD 12.40
- PolyPhen-2 0.02
- SIFT 0.18
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available