R6P (p.Arg6Pro) variant of TNFRSF13C (Q96RJ3)
R6P (p.Arg6Pro) 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 0.24 / 1. The record also includes population frequency data.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- 1000Genomes rs1282859624
- TOPMed rs1282859624
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.14
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)