Y48F (p.Tyr48Phe) variant of PTPN2 (P17706)
Y48F (p.Tyr48Phe) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Y48F (p.Tyr48Phe) variant details
- p.Tyr48Phe
- ExAC rs759832705
- gnomAD rs759832705
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.76
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available