C30C (p.Cys30Cys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
C30C (p.Cys30Cys) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
C30C (p.Cys30Cys) variant details
- p.Cys30Cys
- rs891192393
- gnomAD X-18510845-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available