S55N (p.Ser55Asn) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
S55N (p.Ser55Asn) 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 Inborn genetic diseases; Autoimmune lymphoproliferative syndrome due to CTLA4 ha. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S55N (p.Ser55Asn) variant details
- p.Ser55Asn
- rs1688712684
- ClinGen CA350138194
- ClinVar RCV003748089
- gnomAD rs1688712684
- Uncertain significance
- Inborn genetic diseases; Autoimmune lymphoproliferative syndrome due to CTLA4 ha
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- MetaLR 0.27
- MetaSVM -0.51
- CADD 20.70
- PolyPhen-2 0.81
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases; Autoimmune lymphoproliferative syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available