I76V (p.Ile76Val) variant of PTPN2 (P17706)
I76V (p.Ile76Val) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- TOPMed rs2042882761
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.19
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.99
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available