R114H (p.Arg114His) variant of PTPN2 (P17706)
R114H (p.Arg114His) 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 0.66 / 1. The record also includes population frequency data and structural context.
R114H (p.Arg114His) variant details
- p.Arg114His
- rs145657672
- cosmic curated COSV58996
- ESP rs145657672
- ExAC rs145657672
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.73
- CADD 25.10
- PolyPhen-2 0.44
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available