R18G (p.Arg18Gly) variant of CCND2 (G1/S-specific cyclin-D2)
R18G (p.Arg18Gly) 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.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- 1000Genomes rs535993641
- ExAC rs535993641
- TOPMed rs535993641
- gnomAD rs535993641
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -1.05
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available