A2T (p.Ala2Thr) variant of CDK7 (Cyclin-dependent kinase 7)
A2T (p.Ala2Thr) 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 and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- TOPMed rs1748849188
- gnomAD rs1748849188
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.09
- CADD 24.50
- PolyPhen-2 0.10
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available