H7D (p.His7Asp) variant of CDK12 (Cyclin-dependent kinase 12)
H7D (p.His7Asp) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
H7D (p.His7Asp) variant details
- p.His7Asp
- TOPMed rs1477267149
- gnomAD rs1477267149
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.51
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available