C7S (p.Cys7Ser) variant of CDK6 (Cyclin-dependent kinase 6)
C7S (p.Cys7Ser) in CDK6 (Cyclin-dependent kinase 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
C7S (p.Cys7Ser) variant details
- p.Cys7Ser
- Ensembl rs2116034828
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.20
- MetaLR 0.18
- MetaSVM -0.93
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available