S50F (p.Ser50Phe) variant of CASP9 (Caspase-9)
S50F (p.Ser50Phe) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- ExAC rs754528975
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.17
- CADD 27.30
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available