P43R (p.Pro43Arg) variant of TNFRSF13C (Q96RJ3)
P43R (p.Pro43Arg) in TNFRSF13C (Q96RJ3) 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 0.26 / 1. The record also includes population frequency data.
P43R (p.Pro43Arg) variant details
- p.Pro43Arg
- TOPMed rs2077634246
- gnomAD rs2077634246
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.18
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)