G20S (p.Gly20Ser) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G20S (p.Gly20Ser) 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 Developmental and epileptic encephalopathy, 2; Angelman syndrome-like. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs267608418
- ClinGen CA412489608
- ClinVar RCV001047599
- ClinVar RCV005912483
- Likely pathogenic
- Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.65
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 2; Angelman syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)