G15D (p.Gly15Asp) variant of CDK4 (Cyclin-dependent kinase 4)
G15D (p.Gly15Asp) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G15D (p.Gly15Asp) variant details
- p.Gly15Asp
- Ensembl rs2140388684
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available