F136L (p.Phe136Leu) variant of PTPN2 (P17706)
F136L (p.Phe136Leu) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F136L (p.Phe136Leu) variant details
- p.Phe136Leu
- 1000Genomes rs142645165
- ESP rs142645165
- ExAC rs142645165
- TOPMed rs142645165
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.11
- SIFT 0.08
- Most common in the 1KG:ESN population (allele frequency 0.015)
- Structural context available