R33C (p.Arg33Cys) variant of CCND3 (G1/S-specific cyclin-D3)
R33C (p.Arg33Cys) in CCND3 (G1/S-specific cyclin-D3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- cosmic curated COSV65913
- ExAC rs778979671
- TOPMed rs778979671
- gnomAD rs778979671
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.11
- CADD 27.70
- PolyPhen-2 0.81
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available