L99F (p.Leu99Phe) variant of PTPN2 (P17706)
L99F (p.Leu99Phe) in PTPN2 (P17706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L99F (p.Leu99Phe) variant details
- p.Leu99Phe
- TOPMed rs889010899
- gnomAD rs889010899
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.65
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available