A157P (p.Ala157Pro) variant of CDKL5 (Cyclin-dependent kinase-like 5)
A157P (p.Ala157Pro) 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 0.76 / 1. The record also includes published literature and structural context.
A157P (p.Ala157Pro) variant details
- p.Ala157Pro
- rs2147145500
- ClinGen CA412352120
- ClinVar RCV001881738
- ClinVar RCV003448429
- Likely pathogenic
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)