S67I (p.Ser67Ile) variant of CASP9 (Caspase-9)
S67I (p.Ser67Ile) in CASP9 (Caspase-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S67I (p.Ser67Ile) variant details
- p.Ser67Ile
- TOPMed rs1322753635
- gnomAD rs1322753635
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.24
- CADD 24.30
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available