A11T (p.Ala11Thr) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
A11T (p.Ala11Thr) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- Ensembl rs1688657575
- Uncertain significance
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- MetaLR 0.05
- MetaSVM -1.03
- CADD 8.09
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuff)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available