L135M (p.Leu135Met) variant of PTPN2 (P17706)
L135M (p.Leu135Met) 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 0.25 / 1. The record also includes population frequency data and structural context.
L135M (p.Leu135Met) variant details
- p.Leu135Met
- rs750105074
- ClinGen CA8898781
- ClinVar RCV004264401
- ExAC rs750105074
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.14
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.001)
- Structural context available