N140K (p.Asn140Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
N140K (p.Asn140Lys) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
N140K (p.Asn140Lys) variant details
- p.Asn140Lys
- rs1925492808
- ClinGen CA412350803
- ClinVar RCV001058028
- Ensembl rs1925492808
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.73
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)