Y86D (p.Tyr86Asp) variant of CDKL5 (Cyclin-dependent kinase-like 5)
Y86D (p.Tyr86Asp) 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 0.66 / 1. The record also includes published literature and structural context.
Y86D (p.Tyr86Asp) variant details
- p.Tyr86Asp
- rs2147139669
- ClinGen CA412348802
- ClinVar RCV001378902
- Ensembl rs2147139669
- Likely pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)