Q219P (p.Gln219Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
Q219P (p.Gln219Pro) 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 0.54 / 1. The record also includes published literature and structural context.
Q219P (p.Gln219Pro) variant details
- p.Gln219Pro
- rs786204963
- ClinGen CA199370
- ClinVar RCV000169988
- ClinVar RCV000622992
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 1.00
- MetaLR 0.34
- MetaSVM -0.29
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)