S67N (p.Ser67Asn) variant of CASP9 (Caspase-9)
S67N (p.Ser67Asn) 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 0.21 / 1. The record also includes population frequency data and structural context.
S67N (p.Ser67Asn) variant details
- p.Ser67Asn
- TOPMed rs1322753635
- gnomAD rs1322753635
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.06
- CADD 21.90
- PolyPhen-2 0.60
- SIFT 0.37
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available