L6Q (p.Leu6Gln) variant of IFNAR1 (Interferon alpha/beta receptor 1)
L6Q (p.Leu6Gln) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- gnomAD 21-33325072-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.35
- MetaLR 0.46
- MetaSVM -0.64
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available