A56S (p.Ala56Ser) variant of TNFRSF13C (Q96RJ3)
A56S (p.Ala56Ser) in TNFRSF13C (Q96RJ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
A56S (p.Ala56Ser) variant details
- p.Ala56Ser
- gnomAD 22-41926302-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.07
- CADD 18.30
- PolyPhen-2 0.41
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Literature evidence available