R58C (p.Arg58Cys) variant of PTPN2 (P17706)
R58C (p.Arg58Cys) in PTPN2 (P17706) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available