S120L (p.Ser120Leu) variant of PTPN2 (P17706)
S120L (p.Ser120Leu) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S120L (p.Ser120Leu) variant details
- p.Ser120Leu
- cosmic curated COSV58998
- ExAC rs758414586
- gnomAD rs758414586
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.56
- CADD 25.50
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available