S4Y (p.Ser4Tyr) variant of CDK4 (Cyclin-dependent kinase 4)
S4Y (p.Ser4Tyr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- rs1227101024
- ClinGen CA385549328
- ClinVar RCV001225758
- ClinVar RCV005012639
- Uncertain significance
- Familial melanoma; Melanoma, cutaneous malignant, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.06
- CADD 23.80
- PolyPhen-2 0.32
- SIFT 0.03
- ClinVar: Uncertain significance (Familial melanoma; Melanoma, cutaneous malignant, susceptibility)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)