W176R (p.Trp176Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
W176R (p.Trp176Arg) 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 CDKL5 disorder; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
W176R (p.Trp176Arg) variant details
- p.Trp176Arg
- rs587783084
- ClinGen CA294603
- ClinVar RCV000144746
- Ensembl rs587783084
- Likely pathogenic
- CDKL5 disorder; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.63
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (CDKL5 disorder; Developmental and epileptic encephalopathy, 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)