R17H (p.Arg17His) variant of PTPN2 (P17706)
R17H (p.Arg17His) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- TOPMed rs1272652429
- gnomAD rs1272652429
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.05
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available