N8D (p.Asn8Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
N8D (p.Asn8Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N8D (p.Asn8Asp) variant details
- p.Asn8Asp
- gnomAD rs1389285694
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- MetaLR 0.11
- MetaSVM -0.75
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available