A54T (p.Ala54Thr) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
A54T (p.Ala54Thr) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs1553657387
- ClinGen CA350138187
- cosmic curated COSV10942
- ClinVar RCV000615288
- Conflicting interpretations
- 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: Conflicting classifications of pathogenicity (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available