S48F (p.Ser48Phe) variant of CASP9 (Caspase-9)
S48F (p.Ser48Phe) 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 0.28 / 1. The record also includes population frequency data and structural context.
S48F (p.Ser48Phe) variant details
- p.Ser48Phe
- ExAC rs778541174
- TOPMed rs778541174
- gnomAD rs778541174
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.15
- CADD 25.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available