A2S (p.Ala2Ser) variant of CDK9 (Cyclin-dependent kinase 9)
A2S (p.Ala2Ser) in CDK9 (Cyclin-dependent kinase 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- rs1463583471
- gnomAD 9-127785810-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 18.20
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available