S62V (p.Ser62Val) variant of TNFRSF13C (Q96RJ3)
S62V (p.Ser62Val) in TNFRSF13C (Q96RJ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and published literature.
S62V (p.Ser62Val) variant details
- p.Ser62Val
- gnomAD 22-41926285-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 23.40
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Literature evidence available