A2V (p.Ala2Val) variant of CDK7 (Cyclin-dependent kinase 7)
A2V (p.Ala2Val) in CDK7 (Cyclin-dependent kinase 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 5-69234980-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.09
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available