R33G (p.Arg33Gly) variant of CCND3 (G1/S-specific cyclin-D3)
R33G (p.Arg33Gly) in CCND3 (G1/S-specific cyclin-D3) 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 0.27 / 1. The record also includes population frequency data and structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- rs778979671
- ClinGen CA3804401
- ClinVar RCV004308806
- ExAC rs778979671
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.33
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0032)
- Structural context available