R175K (p.Arg175Lys) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R175K (p.Arg175Lys) 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 0.51 / 1. The record also includes published literature and structural context.
R175K (p.Arg175Lys) variant details
- p.Arg175Lys
- rs1064794734
- ClinGen CA412352455
- ClinVar RCV003805464
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 1.00
- MetaLR 0.25
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Likely pathogenic (in DEE2)
- UniProt: Likely pathogenic (in DEE2)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)