D22V (p.Asp22Val) variant of HBB (Hemoglobin subunit beta)
D22V (p.Asp22Val) in HBB (Hemoglobin subunit beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
D22V (p.Asp22Val) variant details
- p.Asp22Val
- rs33977536
- ClinGen CA217115275
- ClinVar RCV001801095
- TOPMed rs33977536
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- ESM-1b 0.72
- AlphaMissense 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in Yusa)
- UniProt: Uncertain significance (in Yusa)
- Structural context available