V101I (p.Val101Ile) variant of PTPN2 (P17706)
V101I (p.Val101Ile) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V101I (p.Val101Ile) variant details
- p.Val101Ile
- TOPMed rs1432576957
- gnomAD rs1432576957
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.23
- CADD 17.90
- PolyPhen-2 0.12
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available