L16M (p.Leu16Met) variant of IFNG (Interferon gamma)
L16M (p.Leu16Met) in IFNG (Interferon gamma) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- ExAC rs749298180
- TOPMed rs749298180
- gnomAD rs749298180
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.22
- MetaLR 0.21
- MetaSVM -0.94
- CADD 14.50
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00085)
- Structural context available