R14C (p.Arg14Cys) variant of CCND1 (G1/S-specific cyclin-D1)
R14C (p.Arg14Cys) in CCND1 (G1/S-specific cyclin-D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- gnomAD rs1372181670
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available