V59L (p.Val59Leu) variant of IFNAR1 (Interferon alpha/beta receptor 1)
V59L (p.Val59Leu) 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.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- Ensembl rs2123668766
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.25
- MetaLR 0.26
- MetaSVM -0.85
- CADD 18.90
- PolyPhen-2 0.31
- SIFT 0.03
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available