Q132H (p.Gln132His) variant of PTPN2 (P17706)
Q132H (p.Gln132His) in PTPN2 (P17706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Q132H (p.Gln132His) variant details
- p.Gln132His
- rs756443279
- ClinGen CA296753533
- ClinVar RCV004179622
- ExAC rs756443279
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.21
- CADD 9.95
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available