H133P (p.His133Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H133P (p.His133Pro) 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 Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
H133P (p.His133Pro) variant details
- p.His133Pro
- rs1925424843
- ClinGen CA412350417
- ClinVar RCV001070166
- Ensembl rs1925424843
- Uncertain significance
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)