V2V (p.Val2Val) variant of HBB (Hemoglobin subunit beta)
V2V (p.Val2Val) in HBB (Hemoglobin subunit beta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V2V (p.Val2Val) variant details
- p.Val2Val
- rs1349384278
- gnomAD 11-5227016-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 7.40
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available