R16L (p.Arg16Leu) variant of PTPN2 (P17706)
R16L (p.Arg16Leu) in PTPN2 (P17706) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- TOPMed rs1206823913
- gnomAD rs1206823913
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.7e-05)
- Structural context available