R17C (p.Arg17Cys) variant of PTPN2 (P17706)
R17C (p.Arg17Cys) 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 0.20 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- NCI-TCGA Cosmic COSV5899
- cosmic curated COSV58996
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available