R133W (p.Arg133Trp) variant of TNFRSF1A (P19438)
R133W (p.Arg133Trp) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R133W (p.Arg133Trp) variant details
- p.Arg133Trp
- ExAC rs771210186
- TOPMed rs771210186
- gnomAD rs771210186
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.51
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available