G146R (p.Gly146Arg) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
G146R (p.Gly146Arg) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Autoimmune lymphoproliferative syndrome due to CTLA4 ha. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G146R (p.Gly146Arg) variant details
- p.Gly146Arg
- rs1688718864
- ClinGen CA350138795
- NCI-TCGA Cosmic COSV5559
- NCI-TCGA Cosmic COSV9986
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Autoimmune lymphoproliferative syndrome due to CTLA4 ha
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- MetaLR 0.39
- MetaSVM -0.17
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Autoimmune lymphoproliferative syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)