A14S (p.Ala14Ser) variant of HBA1 (Hemoglobin subunit alpha)
A14S (p.Ala14Ser) 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 Ravenscourt Park. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- ExAC rs35331909
- TOPMed rs35331909
- gnomAD rs35331909
- Uncertain significance
- in Ravenscourt Park
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.35
- MetaLR 0.46
- MetaSVM -0.61
- CADD 5.53
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Variant of uncertain significance (in Ravenscourt Park)
- UniProt: Uncertain significance (in Ravenscourt Park)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available