C5R (p.Cys5Arg) variant of CCND2 (G1/S-specific cyclin-D2)
C5R (p.Cys5Arg) in CCND2 (G1/S-specific cyclin-D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C5R (p.Cys5Arg) variant details
- p.Cys5Arg
- gnomAD rs1211080900
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.52
- MetaLR 0.12
- MetaSVM -0.85
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available