R70Q (p.Arg70Gln) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
R70Q (p.Arg70Gln) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency; Inherit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R70Q (p.Arg70Gln) variant details
- p.Arg70Gln
- rs1581573705
- ClinGen CA350138293
- cosmic curated COSV10809
- ClinVar RCV001027565
- Likely pathogenic
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency; Inherit
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- MetaLR 0.39
- MetaSVM -0.19
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.05
- ClinVar: Likely pathogenic (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Likely pathogenic (in IDAIL)
- UniProt: Likely pathogenic (in IDAIL)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available