M2I (p.Met2Ile) variant of IFNAR1 (Interferon alpha/beta receptor 1)
M2I (p.Met2Ile) 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 0.41 / 1. The record also includes population frequency data and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.23
- MetaLR 0.32
- MetaSVM -0.53
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available