K45N (p.Lys45Asn) variant of CDKL5 (Cyclin-dependent kinase-like 5)
K45N (p.Lys45Asn) 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 Angelman syndrome-like; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K45N (p.Lys45Asn) variant details
- p.Lys45Asn
- rs1602263431
- ClinGen CA412346736
- ClinVar RCV001296957
- Ensembl rs1602263431
- Uncertain significance
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- MetaLR 0.32
- MetaSVM -0.29
- CADD 26.80
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)