Y27Q (p.Tyr27Gln) variant of CDK7 (Cyclin-dependent kinase 7)
Y27Q (p.Tyr27Gln) in CDK7 (Cyclin-dependent kinase 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y27Q (p.Tyr27Gln) variant details
- p.Tyr27Gln
- rs747863522
- gnomAD 5-69235403-GTT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.814
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available