I15V (p.Ile15Val) variant of ICOS (Inducible T-cell costimulator)
I15V (p.Ile15Val) 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 0.12 / 1. The record also includes population frequency data and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- rs752669955
- ClinGen CA2067196
- ClinVar RCV002775062
- ExAC rs752669955
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.00
- CADD 0.76
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available