R44L (p.Arg44Leu) variant of CDK12 (Cyclin-dependent kinase 12)
R44L (p.Arg44Leu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- TOPMed rs1381858873
- gnomAD rs1381858873
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.57
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available