R60P (p.Arg60Pro) variant of TNFRSF13B (O14836)
R60P (p.Arg60Pro) 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 0.39 / 1. The record also includes population frequency data.
R60P (p.Arg60Pro) variant details
- p.Arg60Pro
- ESP rs373134429
- ExAC rs373134429
- TOPMed rs373134429
- gnomAD rs373134429
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.49
- CADD 21.50
- PolyPhen-2 0.65
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)