T17I (p.Thr17Ile) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
T17I (p.Thr17Ile) 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 0.32 / 1. The record also includes structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs1484109503
- ClinGen CA350137937
- ClinVar RCV003048153
- Uncertain significance
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.29
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Variant of uncertain significance (in dbSNP:rs231775)
- UniProt: Uncertain significance (in dbSNP:rs231775)
- Structural context available