A29V (p.Ala29Val) variant of CDK7 (Cyclin-dependent kinase 7)
A29V (p.Ala29Val) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- gnomAD 5-69235413-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.38
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available