P2H (p.Pro2His) variant of PTPN2 (P17706)
P2H (p.Pro2His) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P2H (p.Pro2His) variant details
- p.Pro2His
- ExAC rs771614274
- TOPMed rs771614274
- gnomAD rs771614274
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.09
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available