G54A (p.Gly54Ala) variant of CDK12 (Cyclin-dependent kinase 12)
G54A (p.Gly54Ala) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G54A (p.Gly54Ala) variant details
- p.Gly54Ala
- TOPMed rs1473672331
- gnomAD rs1473672331
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available