V11A (p.Val11Ala) variant of HBA1 (Hemoglobin subunit alpha)
V11A (p.Val11Ala) in HBA1 (Hemoglobin subunit alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- gnomAD rs1346801414
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.77
- AlphaMissense 0.79
- MetaLR 0.90
- MetaSVM 0.96
- CADD 23.30
- PolyPhen-2 0.41
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available