L12S (p.Leu12Ser) variant of PTPN2 (P17706)
L12S (p.Leu12Ser) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L12S (p.Leu12Ser) variant details
- p.Leu12Ser
- gnomAD rs1445972788
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- CADD 23.60
- PolyPhen-2 0.34
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available