R64Q (p.Arg64Gln) variant of CASP3 (Caspase-3)
R64Q (p.Arg64Gln) in CASP3 (Caspase-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R64Q (p.Arg64Gln) variant details
- p.Arg64Gln
- rs747930965
- NCI-TCGA Cosmic COSV5772
- cosmic curated COSV57725
- ExAC rs747930965
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.48
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available