A46V (p.Ala46Val) variant of CDK9 (Cyclin-dependent kinase 9)
A46V (p.Ala46Val) in CDK9 (Cyclin-dependent kinase 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- rs1454104231
- gnomAD 9-127785922-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 20.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00059)
- Structural context available
- Literature evidence available