R14H (p.Arg14His) variant of ICOS (Inducible T-cell costimulator)
R14H (p.Arg14His) 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.
R14H (p.Arg14His) variant details
- p.Arg14His
- rs776057192
- ClinGen CA2067193
- cosmic curated COSV57029
- ClinVar RCV001890434
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.00
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available