V32M (p.Val32Met) variant of CDK4 (Cyclin-dependent kinase 4)
V32M (p.Val32Met) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V32M (p.Val32Met) variant details
- p.Val32Met
- gnomAD rs1184705669
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.35
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available