S28G (p.Ser28Gly) variant of CDK4 (Cyclin-dependent kinase 4)
S28G (p.Ser28Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- rs2140388551
- ClinGen CA385548967
- ClinVar RCV003040713
- Ensembl rs2140388551
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- AlphaMissense 0.17
- MetaLR 0.21
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.55
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)