E14Q (p.Glu14Gln) variant of CDK6 (Cyclin-dependent kinase 6)
E14Q (p.Glu14Gln) in CDK6 (Cyclin-dependent kinase 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- ExAC rs766582975
- TOPMed rs766582975
- gnomAD rs766582975
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.34
- MetaLR 0.23
- MetaSVM -0.80
- CADD 25.70
- PolyPhen-2 0.96
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available