I6N (p.Ile6Asn) variant of CDKL5 (Cyclin-dependent kinase-like 5)
I6N (p.Ile6Asn) in CDKL5 (Cyclin-dependent kinase-like 5) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I6N (p.Ile6Asn) variant details
- p.Ile6Asn
- rs1458838945
- gnomAD X-18507111-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.35
- CADD 25.30
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available