R8L (p.Arg8Leu) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R8L (p.Arg8Leu) 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 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- rs138279736
- ClinGen CA2067030
- cosmic curated COSV99865
- ClinVar RCV002592440
- Uncertain significance
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- MetaLR 0.10
- MetaSVM -1.02
- CADD 17.60
- PolyPhen-2 0.69
- SIFT 0.06
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- Structural context available