T106S (p.Thr106Ser) variant of PTPN2 (P17706)
T106S (p.Thr106Ser) in PTPN2 (P17706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T106S (p.Thr106Ser) variant details
- p.Thr106Ser
- gnomAD rs1336909079
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.20
- CADD 13.10
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available