L3Q (p.Leu3Gln) variant of CDK7 (Cyclin-dependent kinase 7)
L3Q (p.Leu3Gln) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L3Q (p.Leu3Gln) variant details
- p.Leu3Gln
- gnomAD 5-69234983-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.06
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available