N44Y (p.Asn44Tyr) variant of PTPN2 (P17706)
N44Y (p.Asn44Tyr) 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.
N44Y (p.Asn44Tyr) variant details
- p.Asn44Tyr
- ExAC rs763765476
- gnomAD rs763765476
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.55
- CADD 24.40
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available