V37M (p.Val37Met) variant of CDK4 (Cyclin-dependent kinase 4)
V37M (p.Val37Met) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial melanoma; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V37M (p.Val37Met) variant details
- p.Val37Met
- rs1060501930
- ClinGen CA16613852
- ClinVar RCV000460166
- ClinVar RCV001017293
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.41
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)