F35L (p.Phe35Leu) variant of CASP9 (Caspase-9)
F35L (p.Phe35Leu) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
F35L (p.Phe35Leu) variant details
- p.Phe35Leu
- ExAC rs757925102
- TOPMed rs757925102
- gnomAD rs757925102
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.21
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available