R75Q (p.Arg75Gln) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R75Q (p.Arg75Gln) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R75Q (p.Arg75Gln) variant details
- p.Arg75Gln
- rs1196646336
- ClinGen CA350138321
- cosmic curated COSV10731
- ClinVar RCV001213474
- Uncertain significance
- not provided; Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffic
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- MetaLR 0.23
- MetaSVM -0.78
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Autoimmune lymphoproliferative syndrome due to CTL)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available