S82G (p.Ser82Gly) variant of PTPN2 (P17706)
S82G (p.Ser82Gly) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S82G (p.Ser82Gly) variant details
- p.Ser82Gly
- 1000Genomes rs74163638
- ESP rs74163638
- ExAC rs74163638
- TOPMed rs74163638
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.42
- CADD 25.50
- PolyPhen-2 0.40
- SIFT 0.06
- Most common in the HGDP:RUSSIAN population (allele frequency 0.04)
- Structural context available