R178Q (p.Arg178Gln) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R178Q (p.Arg178Gln) 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 CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R178Q (p.Arg178Gln) variant details
- p.Arg178Gln
- rs267606715
- ClinGen CA199289
- NCI-TCGA Cosmic COSV6611
- cosmic curated COSV66111
- Pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.13
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (CDKL5 disorder)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Population evidence available
- Structural context available
- Cited in: Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. (PMID 23662938)
- Cited in: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID 23708187)