V20L (p.Val20Leu) variant of IFNAR1 (Interferon alpha/beta receptor 1)
V20L (p.Val20Leu) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.10
- MetaLR 0.31
- MetaSVM -0.85
- CADD 18.60
- PolyPhen-2 0.12
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available