S10V (p.Ser10Val) variant of HBB (Hemoglobin subunit beta)
S10V (p.Ser10Val) in HBB (Hemoglobin subunit beta) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S10V (p.Ser10Val) variant details
- p.Ser10Val
- rs35699606
- gnomAD 11-5226994-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 22.80
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available