L106F (p.Leu106Phe) variant of CASP9 (Caspase-9)
L106F (p.Leu106Phe) in CASP9 (Caspase-9) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L106F (p.Leu106Phe) variant details
- p.Leu106Phe
- 1000Genomes rs2308938
- ESP rs2308938
- ExAC rs2308938
- TOPMed rs2308938
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.10
- CADD 15.90
- PolyPhen-2 0.56
- SIFT 0.08
- EBI: Benign (in dbSNP:rs2308938)
- UniProt: Benign (in dbSNP:rs2308938)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available