I19L (p.Ile19Leu) variant of CDK6 (Cyclin-dependent kinase 6)
I19L (p.Ile19Leu) in CDK6 (Cyclin-dependent kinase 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I19L (p.Ile19Leu) variant details
- p.Ile19Leu
- Ensembl rs2116034159
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.27
- MetaLR 0.12
- MetaSVM -0.83
- CADD 31.00
- PolyPhen-2 0.90
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available