G216R (p.Gly216Arg) variant of CTNNB1 (Catenin beta-1)
G216R (p.Gly216Arg) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Severe intellectual disability-progressive spastic diplegia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
G216R (p.Gly216Arg) variant details
- p.Gly216Arg
- rs2125623075
- ClinGen CA352229761
- ClinVar RCV001788510
- Ensembl rs2125623075
- Pathogenic
- Severe intellectual disability-progressive spastic diplegia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.13
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Severe intellectual disability-progressive spastic diplegia synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CTNNB1 Neurodevelopmental Disorder. (PMID 35593792)