G575R (p.Gly575Arg) variant of CTNNB1 (Catenin beta-1)
G575R (p.Gly575Arg) in CTNNB1 (Catenin beta-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CTNNB1-related disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
G575R (p.Gly575Arg) variant details
- p.Gly575Arg
- rs797044875
- Ensembl rs797044875
- ClinGen CA204652
- NCI-TCGA Cosmic COSV6269
- Pathogenic
- CTNNB1-related disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic (Severe intellectual disability-progressive spastic diplegia synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)