A108S (p.Ala108Ser) variant of PTPN2 (P17706)
A108S (p.Ala108Ser) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A108S (p.Ala108Ser) variant details
- p.Ala108Ser
- TOPMed rs1413571843
- gnomAD rs1413571843
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.74
- CADD 25.90
- PolyPhen-2 0.93
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available