P20L (p.Pro20Leu) variant of PTPN2 (P17706)
P20L (p.Pro20Leu) 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 0.14 / 1. The record also includes population frequency data and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs562857102
- ClinGen CA402035672
- ClinVar RCV004133080
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.03
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available