I52M (p.Ile52Met) variant of CDK2 (Cyclin-dependent kinase 2)
I52M (p.Ile52Met) in CDK2 (Cyclin-dependent kinase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I52M (p.Ile52Met) variant details
- p.Ile52Met
- gnomAD 12-55967896-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.53
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available