T20A (p.Thr20Ala) variant of CDK12 (Cyclin-dependent kinase 12)
T20A (p.Thr20Ala) in CDK12 (Cyclin-dependent kinase 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- gnomAD 17-39462129-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.07
- CADD 20.70
- PolyPhen-2 0.13
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available