R18C (p.Arg18Cys) variant of CCND2 (G1/S-specific cyclin-D2)
R18C (p.Arg18Cys) in CCND2 (G1/S-specific cyclin-D2) is a missense change. 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.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- 1000Genomes rs535993641
- ExAC rs535993641
- TOPMed rs535993641
- gnomAD rs535993641
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -0.98
- CADD 24.40
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available