H30N (p.His30Asn) variant of PTPN2 (P17706)
H30N (p.His30Asn) 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.
H30N (p.His30Asn) variant details
- p.His30Asn
- cosmic curated COSV10051
- ExAC rs755572904
- TOPMed rs755572904
- gnomAD rs755572904
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.09
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available