Q111R (p.Gln111Arg) variant of TNFRSF1A (P19438)
Q111R (p.Gln111Arg) 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 0.69 / 1. The record also includes population frequency data and structural context.
Q111R (p.Gln111Arg) variant details
- p.Gln111Arg
- rs2136822038
- ClinGen CA383550311
- ClinVar RCV001755287
- Ensembl rs2136822038
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.73
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available