C7W (p.Cys7Trp) variant of CDK6 (Cyclin-dependent kinase 6)
C7W (p.Cys7Trp) in CDK6 (Cyclin-dependent kinase 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
C7W (p.Cys7Trp) variant details
- p.Cys7Trp
- TOPMed rs1464756248
- gnomAD rs1464756248
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.08
- MetaLR 0.24
- MetaSVM -0.71
- CADD 21.00
- PolyPhen-2 0.07
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available