L30I (p.Leu30Ile) variant of IFNAR1 (Interferon alpha/beta receptor 1)
L30I (p.Leu30Ile) 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 0.33 / 1. The record also includes population frequency data and structural context.
L30I (p.Leu30Ile) variant details
- p.Leu30Ile
- NCI-TCGA Cosmic COSV5425
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.32
- MetaLR 0.53
- MetaSVM -0.45
- CADD 20.60
- PolyPhen-2 1.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available