A6V (p.Ala6Val) variant of HBA1 (Hemoglobin subunit alpha)
A6V (p.Ala6Val) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in Karachi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- NCI-TCGA Cosmic COSV9928
- Variant assessed as somatic; moderate impact.
- in Karachi
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.50
- MetaLR 0.72
- MetaSVM 0.05
- CADD 0.64
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact. (in Karachi)
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available