L424R (p.Leu424Arg) variant of CTNNB1 (Catenin beta-1)
L424R (p.Leu424Arg) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe intellectual disability-progressive spastic diplegia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
L424R (p.Leu424Arg) variant details
- p.Leu424Arg
- rs863224864
- ClinGen CA279021
- ClinVar RCV000199502
- Ensembl rs863224864
- Likely pathogenic
- Severe intellectual disability-progressive spastic diplegia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Severe intellectual disability-progressive spastic diplegia synd)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CTNNB1 Neurodevelopmental Disorder. (PMID 35593792)