L17F (p.Leu17Phe) variant of IFNAR2 (Interferon alpha/beta receptor 2)
L17F (p.Leu17Phe) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- gnomAD 21-33241971-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.36
- CADD 19.40
- PolyPhen-2 0.97
- SIFT 0.15
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available