I43T (p.Ile43Thr) variant of CDK7 (Cyclin-dependent kinase 7)
I43T (p.Ile43Thr) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- gnomAD 5-69252419-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.87
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available