R65Q (p.Arg65Gln) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R65Q (p.Arg65Gln) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R65Q (p.Arg65Gln) variant details
- p.Arg65Gln
- rs267608436
- ClinGen CA170462
- cosmic curated COSV66111
- ClinVar RCV000133336
- Likely benign
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.20
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)