S49A (p.Ser49Ala) variant of TNFRSF13C (Q96RJ3)
S49A (p.Ser49Ala) in TNFRSF13C (Q96RJ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
S49A (p.Ser49Ala) variant details
- p.Ser49Ala
- gnomAD 22-41926323-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 11.30
- Population evidence available
- Literature evidence available