T17A (p.Thr17Ala) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
T17A (p.Thr17Ala) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- rs231775
- ClinGen CA126974
- cosmic curated COSV55592
- ClinVar RCV000018423
- Benign
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- MetaLR 0.00
- MetaSVM -0.91
- CADD 0.40
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Benign (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- EBI: Benign (in dbSNP:rs231775)
- UniProt: Benign (in dbSNP:rs231775)
- Most common in the HGDP:SHE population (allele frequency 0.78)
- Structural context available
- Cited in: CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. (PMID 10189842)
- Cited in: Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. (PMID 10475192)