E77Q (p.Glu77Gln) variant of PTPN2 (P17706)
E77Q (p.Glu77Gln) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E77Q (p.Glu77Gln) variant details
- p.Glu77Gln
- cosmic curated COSV58998
- ExAC rs752113628
- gnomAD rs752113628
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.45
- CADD 23.70
- PolyPhen-2 0.31
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available