W16V (p.Trp16Val) variant of HBB (Hemoglobin subunit beta)
W16V (p.Trp16Val) in HBB (Hemoglobin subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
W16V (p.Trp16Val) variant details
- p.Trp16Val
- rs35383398
- gnomAD 11-5226976-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 23.80
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Literature evidence available