G50C (p.Gly50Cys) variant of CDK6 (Cyclin-dependent kinase 6)
G50C (p.Gly50Cys) in CDK6 (Cyclin-dependent kinase 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G50C (p.Gly50Cys) variant details
- p.Gly50Cys
- TOPMed rs1368516053
- gnomAD rs1368516053
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.21
- MetaLR 0.22
- MetaSVM -0.84
- CADD 23.40
- PolyPhen-2 0.75
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available