A17G (p.Ala17Gly) variant of CDK6 (Cyclin-dependent kinase 6)
A17G (p.Ala17Gly) in CDK6 (Cyclin-dependent kinase 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- Ensembl rs2116034248
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.39
- MetaLR 0.13
- MetaSVM -0.75
- CADD 27.70
- PolyPhen-2 0.91
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available