L182P (p.Leu182Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
L182P (p.Leu182Pro) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L182P (p.Leu182Pro) variant details
- p.Leu182Pro
- rs2147145603
- ClinGen CA412352546
- ClinVar RCV002274635
- ClinVar RCV004729131
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- MetaLR 0.62
- MetaSVM 0.51
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Pathogenic (in DEE2)
- UniProt: Pathogenic (in DEE2)
- Population evidence available
- Structural context available
- Cited in: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID 23708187)
- Cited in: Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. (PMID 12736870)