R47G (p.Arg47Gly) variant of PTPN2 (P17706)
R47G (p.Arg47Gly) 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.
R47G (p.Arg47Gly) variant details
- p.Arg47Gly
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- gnomAD rs2043701947
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.89
- CADD 27.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available