L30V (p.Leu30Val) variant of IFNAR1 (Interferon alpha/beta receptor 1)
L30V (p.Leu30Val) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- TOPMed rs2083225413
- gnomAD rs2083225413
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.29
- MetaLR 0.39
- MetaSVM -0.66
- CADD 19.30
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available