P138A (p.Pro138Ala) variant of CDKL5 (Cyclin-dependent kinase-like 5)
P138A (p.Pro138Ala) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Angelman syndrome-like; Developmental and epileptic encephalopathy, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
P138A (p.Pro138Ala) variant details
- p.Pro138Ala
- rs1925492354
- ClinGen CA412350751
- ClinVar RCV001341921
- Ensembl rs1925492354
- Pathogenic
- Angelman syndrome-like; Developmental and epileptic encephalopathy, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.99
- MetaLR 0.32
- MetaSVM -0.43
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Angelman syndrome-like; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)