F31L (p.Phe31Leu) variant of CDK4 (Cyclin-dependent kinase 4)
F31L (p.Phe31Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- rs1595111145
- ClinGen CA385548907
- ClinVar RCV001019279
- ClinVar RCV003746578
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.93
- MetaLR 0.11
- MetaSVM -1.08
- PolyPhen-2 0.08
- SIFT 0.14
- MutPred 0.33
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial melanoma)
- EBI: Benign
- UniProt: Benign
- 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)