V36M (p.Val36Met) variant of PTPN2 (P17706)
V36M (p.Val36Met) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V36M (p.Val36Met) variant details
- p.Val36Met
- 1000Genomes rs537221478
- ExAC rs537221478
- TOPMed rs537221478
- gnomAD rs537221478
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.20
- CADD 25.10
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available