N71K (p.Asn71Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
N71K (p.Asn71Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
N71K (p.Asn71Lys) variant details
- p.Asn71Lys
- rs1602269367
- ClinGen CA412348673
- ClinVar RCV000990476
- Ensembl rs1602269367
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)