P2L (p.Pro2Leu) variant of PTPN2 (P17706)
P2L (p.Pro2Leu) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- ExAC rs771614274
- TOPMed rs771614274
- gnomAD rs771614274
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.07
- CADD 20.50
- PolyPhen-2 0.02
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available