R70W (p.Arg70Trp) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R70W (p.Arg70Trp) 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 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R70W (p.Arg70Trp) variant details
- p.Arg70Trp
- rs606231422
- ClinGen CA173999
- cosmic curated COSV55592
- ClinVar RCV000148295
- Pathogenic/Likely pathogenic
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- MetaLR 0.48
- MetaSVM 0.04
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Pathogenic (in IDAIL)
- UniProt: Pathogenic (in IDAIL)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. (PMID 25329329)
- Cited in: Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. (PMID 25213377)