N27S (p.Asn27Ser) variant of PTPN2 (P17706)
N27S (p.Asn27Ser) 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 0.17 / 1. The record also includes population frequency data and structural context.
N27S (p.Asn27Ser) variant details
- p.Asn27Ser
- rs950185463
- ClinGen CA296769472
- ClinVar RCV004280936
- TOPMed rs950185463
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.08
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available