A14T (p.Ala14Thr) variant of HBA1 (Hemoglobin subunit alpha)
A14T (p.Ala14Thr) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- ExAC rs35331909
- TOPMed rs35331909
- gnomAD rs35331909
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.28
- MetaLR 0.46
- MetaSVM -0.62
- CADD 7.25
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in Ravenscourt Park)
- UniProt: Uncertain significance (in Ravenscourt Park)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available