K35R (p.Lys35Arg) variant of CDK4 (Cyclin-dependent kinase 4)
K35R (p.Lys35Arg) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
K35R (p.Lys35Arg) variant details
- p.Lys35Arg
- rs2140388477
- ClinGen CA385548863
- NCI-TCGA Cosmic COSV5698
- cosmic curated COSV56983
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 0.60
- SIFT 0.05
- ClinVar: Uncertain significance (Familial melanoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-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)