R79S (p.Arg79Ser) variant of CASP3 (Caspase-3)
R79S (p.Arg79Ser) in CASP3 (Caspase-3) is a missense change. Clinical records from ClinVar, EBI, 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 0.10 / 1. The record also includes population frequency data and structural context.
R79S (p.Arg79Ser) variant details
- p.Arg79Ser
- rs757872342
- ClinGen CA3154059
- cosmic curated COSV10734
- ClinVar RCV004429908
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.08
- CADD 8.23
- PolyPhen-2 0.01
- SIFT 0.74
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available