I15M (p.Ile15Met) variant of ICOS (Inducible T-cell costimulator)
I15M (p.Ile15Met) 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 0.21 / 1. The record also includes population frequency data and structural context.
I15M (p.Ile15Met) variant details
- p.Ile15Met
- rs762842725
- ClinGen CA2067197
- ClinVar RCV001245269
- ExAC rs762842725
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -1.00
- CADD 16.80
- PolyPhen-2 0.16
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available