Y102N (p.Tyr102Asn) variant of TNFRSF13B (O14836)
Y102N (p.Tyr102Asn) in TNFRSF13B (O14836) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
Y102N (p.Tyr102Asn) variant details
- p.Tyr102Asn
- ExAC rs767933010
- TOPMed rs767933010
- gnomAD rs767933010
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.42
- CADD 15.90
- PolyPhen-2 0.55
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)