Q34H (p.Gln34His) variant of IFNAR1 (Interferon alpha/beta receptor 1)
Q34H (p.Gln34His) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q34H (p.Gln34His) variant details
- p.Gln34His
- gnomAD 21-33335549-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.24
- MetaLR 0.46
- MetaSVM -0.61
- CADD 20.00
- PolyPhen-2 0.93
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available