R114C (p.Arg114Cys) variant of PTPN2 (P17706)
R114C (p.Arg114Cys) 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 0.75 / 1. The record also includes population frequency data and structural context.
R114C (p.Arg114Cys) variant details
- p.Arg114Cys
- rs771096169
- NCI-TCGA Cosmic COSV5899
- cosmic curated COSV58998
- ExAC rs771096169
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.85
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available