M111V (p.Met111Val) variant of PTPN2 (P17706)
M111V (p.Met111Val) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
M111V (p.Met111Val) variant details
- p.Met111Val
- gnomAD rs1169141526
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.94
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available