L30Q (p.Leu30Gln) variant of IFNAR1 (Interferon alpha/beta receptor 1)
L30Q (p.Leu30Gln) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- gnomAD 21-33335536-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.49
- MetaLR 0.59
- MetaSVM -0.23
- CADD 23.10
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available