R58C (p.Arg58Cys) variant of TNFRSF4 (P43489)
R58C (p.Arg58Cys) in TNFRSF4 (P43489) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- rs780860323
- ClinGen CA512637
- NCI-TCGA Cosmic COSV9976
- ClinVar RCV004267221
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.36
- CADD 8.12
- PolyPhen-2 0.76
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available