V16L (p.Val16Leu) variant of IFNAR1 (Interferon alpha/beta receptor 1)
V16L (p.Val16Leu) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- TOPMed rs866787077
- gnomAD rs866787077
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.08
- MetaLR 0.14
- MetaSVM -0.98
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available