R31G (p.Arg31Gly) variant of CDKL5 (Cyclin-dependent kinase-like 5)
R31G (p.Arg31Gly) in CDKL5 (Cyclin-dependent kinase-like 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CDKL5 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- rs786204991
- ClinGen CA199415
- ClinVar RCV000170055
- ClinVar RCV004725012
- Uncertain significance
- CDKL5 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- MetaLR 0.29
- MetaSVM -0.44
- CADD 25.90
- PolyPhen-2 0.37
- SIFT 0.01
- ClinVar: Uncertain significance (CDKL5 disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: CDKL5 Deficiency Disorder. (PMID 38603524)