R22Q (p.Arg22Gln) variant of CCND2 (G1/S-specific cyclin-D2)
R22Q (p.Arg22Gln) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- 1000Genomes rs556058578
- ExAC rs556058578
- TOPMed rs556058578
- gnomAD rs556058578
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.01
- MetaLR 0.02
- MetaSVM -0.98
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available