R65P (p.Arg65Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R65P (p.Arg65Pro) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Angelman syndrome-like; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
R65P (p.Arg65Pro) variant details
- p.Arg65Pro
- rs267608436
- ClinGen CA412348630
- ClinVar RCV001385375
- ExAC rs267608436
- Pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)