G13V (p.Gly13Val) variant of CDK4 (Cyclin-dependent kinase 4)
G13V (p.Gly13Val) 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 Familial melanoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- rs753152604
- ClinGen CA6657890
- ClinVar RCV001979982
- ClinVar RCV004946928
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.97
- MetaLR 0.61
- MetaSVM 0.39
- PolyPhen-2 0.61
- SIFT 0.00
- MutPred 0.95
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)