L5F (p.Leu5Phe) variant of ICOS (Inducible T-cell costimulator)
L5F (p.Leu5Phe) 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 0.08 / 1. The record also includes population frequency data and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs1689659275
- ClinGen CA350139428
- ClinVar RCV001210135
- TOPMed rs1689659275
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0846
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.03
- CADD 5.76
- PolyPhen-2 0.01
- SIFT 0.27
- 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