S82R (p.Ser82Arg) variant of PTPN2 (P17706)
S82R (p.Ser82Arg) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S82R (p.Ser82Arg) variant details
- p.Ser82Arg
- 1000Genomes rs74163638
- ESP rs74163638
- ExAC rs74163638
- TOPMed rs74163638
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.18
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available