E6V (p.Glu6Val) variant of PTPN2 (P17706)
E6V (p.Glu6Val) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E6V (p.Glu6Val) variant details
- p.Glu6Val
- ExAC rs758737273
- gnomAD rs758737273
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.15
- CADD 23.70
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available