V2C (p.Val2Cys) variant of HBB (Hemoglobin subunit beta)
V2C (p.Val2Cys) in HBB (Hemoglobin subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V2C (p.Val2Cys) variant details
- p.Val2Cys
- rs63750475
- gnomAD 11-5227017-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available