H127D (p.His127Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
H127D (p.His127Asp) 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 Angelman syndrome-like; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
H127D (p.His127Asp) variant details
- p.His127Asp
- rs1925423909
- ClinGen CA412350308
- ClinVar RCV001351068
- Ensembl rs1925423909
- Likely pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic (in DEE2)
- UniProt: Likely pathogenic (in DEE2)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)