Q48R (p.Gln48Arg) variant of CDK6 (Cyclin-dependent kinase 6)
Q48R (p.Gln48Arg) in CDK6 (Cyclin-dependent kinase 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q48R (p.Gln48Arg) variant details
- p.Gln48Arg
- gnomAD rs1359663998
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.34
- MetaLR 0.16
- MetaSVM -0.87
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available