R59Q (p.Arg59Gln) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R59Q (p.Arg59Gln) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- rs1555949009
- ClinGen CA412348584
- NCI-TCGA Cosmic COSV1011
- NCI-TCGA Cosmic COSV6611
- Uncertain significance
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 1.00
- MetaLR 0.33
- MetaSVM -0.34
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (CDKL5 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)