A20S (p.Ala20Ser) variant of HBA1 (Hemoglobin subunit alpha)
A20S (p.Ala20Ser) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 16-172970-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.38
- MetaLR 0.46
- MetaSVM -0.54
- CADD 0.79
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available