S49R (p.Ser49Arg) variant of TNFRSF13C (Q96RJ3)
S49R (p.Ser49Arg) in TNFRSF13C (Q96RJ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- gnomAD 22-41926320-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 25.30
- Population evidence available
- Literature evidence available