Y17H (p.Tyr17His) variant of CDK4 (Cyclin-dependent kinase 4)
Y17H (p.Tyr17His) 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; Melanoma, cutaneous malignant, susceptibility to, 3; Heredita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y17H (p.Tyr17His) variant details
- p.Tyr17His
- rs1555201383
- ClinGen CA385549110
- ClinVar RCV000527911
- ClinVar RCV002341313
- Uncertain significance
- Familial melanoma; Melanoma, cutaneous malignant, susceptibility to, 3; Heredita
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.51
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial melanoma; Melanoma, cutaneous malignant, susceptibility)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)