Q80H (p.Gln80His) variant of PTPN2 (P17706)
Q80H (p.Gln80His) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q80H (p.Gln80His) variant details
- p.Gln80His
- ExAC rs763426003
- gnomAD rs763426003
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.33
- CADD 11.10
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available