R12L (p.Arg12Leu) variant of TNFRSF13B (O14836)
R12L (p.Arg12Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- ExAC rs754315707
- TOPMed rs754315707
- gnomAD rs754315707
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.20
- CADD 12.60
- PolyPhen-2 0.13
- SIFT 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available