R48I (p.Arg48Ile) variant of CDK7 (Cyclin-dependent kinase 7)
R48I (p.Arg48Ile) in CDK7 (Cyclin-dependent kinase 7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R48I (p.Arg48Ile) variant details
- p.Arg48Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available