S49I (p.Ser49Ile) variant of TNFRSF13C (Q96RJ3)
S49I (p.Ser49Ile) in TNFRSF13C (Q96RJ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
S49I (p.Ser49Ile) variant details
- p.Ser49Ile
- gnomAD 22-41926322-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -0.97
- CADD 24.00
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Literature evidence available