L112Q (p.Leu112Gln) variant of PTPN2 (P17706)
L112Q (p.Leu112Gln) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L112Q (p.Leu112Gln) variant details
- p.Leu112Gln
- gnomAD rs2042647498
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.95
- CADD 28.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available