S36N (p.Ser36Asn) variant of CDK4 (Cyclin-dependent kinase 4)
S36N (p.Ser36Asn) 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 0.29 / 1. The record also includes published literature and structural context.
S36N (p.Ser36Asn) variant details
- p.Ser36Asn
- rs1955238564
- ClinGen CA385548849
- ClinVar RCV002424379
- ClinVar RCV003098624
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.20
- MetaLR 0.06
- MetaSVM -1.07
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.54
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- 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)