S348F (p.Ser348Phe) variant of CTNNB1 (Catenin beta-1)
S348F (p.Ser348Phe) 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 0.61 / 1. The record also includes published literature and structural context.
S348F (p.Ser348Phe) variant details
- p.Ser348Phe
- rs2125628162
- ClinGen CA352231635
- ClinVar RCV003397188
- Ensembl rs2125628162
- Likely pathogenic
- Severe intellectual disability-progressive spastic diplegia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.98
- MetaLR 0.50
- MetaSVM 0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- 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)