R175S (p.Arg175Ser) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R175S (p.Arg175Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
R175S (p.Arg175Ser) variant details
- p.Arg175Ser
- rs61749700
- ClinGen CA121517
- ClinVar RCV000012252
- ClinVar RCV000133372
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 1.00
- MetaLR 0.23
- MetaSVM -0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Structural context available
- Cited in: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe… (PMID 15499549)
- Cited in: Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. (PMID 16935860)