R8Q (p.Arg8Gln) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R8Q (p.Arg8Gln) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs138279736
- ClinGen CA2067031
- ClinVar RCV000545159
- 1000Genomes rs138279736
- Benign
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- MetaLR 0.08
- MetaSVM -1.05
- CADD 21.40
- PolyPhen-2 0.64
- SIFT 0.03
- ClinVar: Benign (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available