P33L (p.Pro33Leu) variant of PTPN2 (P17706)
P33L (p.Pro33Leu) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- cosmic curated COSV10963
- gnomAD rs1375809882
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.18
- CADD 23.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available