Q34L (p.Gln34Leu) variant of IFNAR1 (Interferon alpha/beta receptor 1)
Q34L (p.Gln34Leu) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q34L (p.Gln34Leu) variant details
- p.Gln34Leu
- ExAC rs775701968
- TOPMed rs775701968
- gnomAD rs775701968
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.27
- MetaLR 0.43
- MetaSVM -0.64
- CADD 23.20
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available