A13V (p.Ala13Val) variant of HBA1 (Hemoglobin subunit alpha)
A13V (p.Ala13Val) 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 J-Paris 1/J-Aljezur. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- ExAC rs35615982
- gnomAD rs35615982
- Uncertain significance
- in J-Paris 1/J-Aljezur
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.51
- MetaLR 0.71
- MetaSVM 0.07
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.03
- EBI: Variant of uncertain significance (in J-Paris 1/J-Aljezur)
- UniProt: Uncertain significance (in J-Paris 1/J-Aljezur)
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available