G25R (p.Gly25Arg) variant of CDKL5 (Cyclin-dependent kinase-like 5)
G25R (p.Gly25Arg) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- rs587783130
- ClinGen CA294694
- ClinVar RCV000144802
- Ensembl rs587783130
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- MetaLR 0.67
- MetaSVM 0.70
- CADD 34.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available