Y6H (p.Tyr6His) variant of CDK4 (Cyclin-dependent kinase 4)
Y6H (p.Tyr6His) 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 0.65 / 1. The record also includes published literature and structural context.
Y6H (p.Tyr6His) variant details
- p.Tyr6His
- rs2140388780
- ClinGen CA385549301
- ClinVar RCV002013763
- Ensembl rs2140388780
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- AlphaMissense 0.94
- MetaLR 0.56
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- 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)