N8N (p.Asn8Asn) variant of CDKL5 (Cyclin-dependent kinase-like 5)
N8N (p.Asn8Asn) in CDKL5 (Cyclin-dependent kinase-like 5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N8N (p.Asn8Asn) variant details
- p.Asn8Asn
- rs1465523714
- gnomAD X-18507120-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 12.60
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available