R9L (p.Arg9Leu) variant of TNFRSF13B (O14836)
R9L (p.Arg9Leu) 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 0.26 / 1. The record also includes population frequency data.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- ExAC rs772399974
- TOPMed rs772399974
- gnomAD rs772399974
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.35
- CADD 8.17
- PolyPhen-2 0.43
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)