A2S (p.Ala2Ser) variant of CDK7 (Cyclin-dependent kinase 7)
A2S (p.Ala2Ser) 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.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 5-69234979-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.09
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available