L5I (p.Leu5Ile) variant of IFNAR1 (Interferon alpha/beta receptor 1)
L5I (p.Leu5Ile) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L5I (p.Leu5Ile) variant details
- p.Leu5Ile
- gnomAD 21-33325068-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.07
- MetaLR 0.20
- MetaSVM -0.87
- CADD 10.40
- PolyPhen-2 0.28
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available