G52D (p.Gly52Asp) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
G52D (p.Gly52Asp) 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; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
G52D (p.Gly52Asp) variant details
- p.Gly52Asp
- rs1688712533
- ClinGen CA350138175
- ClinVar RCV001091183
- ClinVar RCV006465338
- Uncertain significance
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- AlphaMissense 0.78
- MetaLR 0.25
- MetaSVM -0.55
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.35
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available