V11D (p.Val11Asp) variant of HBA1 (Hemoglobin subunit alpha)
V11D (p.Val11Asp) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
V11D (p.Val11Asp) variant details
- p.Val11Asp
- rs1377677959
- ClinGen CA393992979
- ClinVar RCV002481139
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.79
- MetaLR 0.90
- MetaSVM 0.96
- SIFT 0.00
- MutPred 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available