N5D (p.Asn5Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
N5D (p.Asn5Asp) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 2; Angelman syndrome-like; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N5D (p.Asn5Asp) variant details
- p.Asn5Asp
- rs767844474
- ClinGen CA10360169
- ClinVar RCV000482464
- ClinVar RCV002526606
- Uncertain significance
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- MetaLR 0.14
- MetaSVM -0.91
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.95
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.0065)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)