H36D (p.His36Asp) variant of CDK12 (Cyclin-dependent kinase 12)
H36D (p.His36Asp) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H36D (p.His36Asp) variant details
- p.His36Asp
- gnomAD 17-39462177-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.37
- CADD 26.10
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available