P2S (p.Pro2Ser) variant of PTPN2 (P17706)
P2S (p.Pro2Ser) in PTPN2 (P17706) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- rs867096066
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- TOPMed rs867096066
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.03
- CADD 9.56
- PolyPhen-2 0.00
- SIFT 0.95
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available