R16H (p.Arg16His) variant of PTPN2 (P17706)
R16H (p.Arg16His) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- cosmic curated COSV58997
- TOPMed rs1206823913
- gnomAD rs1206823913
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.04
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available