S79R (p.Ser79Arg) variant of ICOS (Inducible T-cell costimulator)
S79R (p.Ser79Arg) 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 0.10 / 1. The record also includes population frequency data and structural context.
S79R (p.Ser79Arg) variant details
- p.Ser79Arg
- rs2105754222
- ClinGen CA350139941
- ClinVar RCV001947826
- Ensembl rs2105754222
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0973
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.00
- CADD 13.00
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available