R48T (p.Arg48Thr) variant of CDK7 (Cyclin-dependent kinase 7)
R48T (p.Arg48Thr) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R48T (p.Arg48Thr) variant details
- p.Arg48Thr
- ExAC rs778386185
- gnomAD rs778386185
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.44
- CADD 26.20
- PolyPhen-2 0.72
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available