L13F (p.Leu13Phe) variant of IFNAR2 (Interferon alpha/beta receptor 2)
L13F (p.Leu13Phe) in IFNAR2 (Interferon alpha/beta receptor 2) 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 0.18 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- ExAC rs752249011
- gnomAD rs752249011
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.17
- CADD 9.57
- PolyPhen-2 0.19
- SIFT 0.16
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available