R38T (p.Arg38Thr) variant of CDK4 (Cyclin-dependent kinase 4)
R38T (p.Arg38Thr) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar 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 0.50 / 1. The record also includes population frequency data and structural context.
R38T (p.Arg38Thr) variant details
- p.Arg38Thr
- Ensembl rs2140388455
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (Familial melanoma)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available