A40A (p.Ala40Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A40A (p.Ala40Ala) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A40A (p.Ala40Ala) variant details
- p.Ala40Ala
- gnomAD X-18564497-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 5.83
- Most common in the Non-Finnish European population (allele frequency 2.6e-06)
- Structural context available
- Literature evidence available