A54P (p.Ala54Pro) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
A54P (p.Ala54Pro) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
A54P (p.Ala54Pro) variant details
- p.Ala54Pro
- rs1553657387
- ClinGen CA350138185
- ClinVar RCV003055780
- Pathogenic
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.38
- MetaLR 0.48
- MetaSVM 0.18
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.54
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available