S91G (p.Ser91Gly) variant of ICOS (Inducible T-cell costimulator)
S91G (p.Ser91Gly) in ICOS (Inducible T-cell costimulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S91G (p.Ser91Gly) variant details
- p.Ser91Gly
- rs1314279149
- ClinGen CA350140028
- ClinVar RCV001244799
- TOPMed rs1314279149
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.05
- CADD 13.30
- SIFT 0.06
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available