H30Y (p.His30Tyr) variant of CDK4 (Cyclin-dependent kinase 4)
H30Y (p.His30Tyr) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- rs750707985
- ClinGen CA6657886
- ClinVar RCV001018479
- ClinVar RCV001308785
- Uncertain significance
- Familial melanoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.15
- CADD 24.10
- PolyPhen-2 0.44
- SIFT 0.01
- ClinVar: Uncertain significance (Familial melanoma; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)