Q48H (p.Gln48His) variant of CDK6 (Cyclin-dependent kinase 6)
Q48H (p.Gln48His) in CDK6 (Cyclin-dependent kinase 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q48H (p.Gln48His) variant details
- p.Gln48His
- ExAC rs748860173
- gnomAD rs748860173
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.23
- MetaLR 0.12
- MetaSVM -0.93
- CADD 22.00
- PolyPhen-2 0.09
- SIFT 0.15
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available