R75W (p.Arg75Trp) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R75W (p.Arg75Trp) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R75W (p.Arg75Trp) variant details
- p.Arg75Trp
- rs1688714312
- ClinGen CA350138320
- NCI-TCGA Cosmic COSV5559
- cosmic curated COSV55592
- Pathogenic
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- MetaLR 0.50
- MetaSVM -0.20
- CADD 24.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available