G20R (p.Gly20Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G20R (p.Gly20Arg) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs267608418
- ClinGen CA170496
- ClinVar RCV000133379
- ClinVar RCV002515935
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)