V4I (p.Val4Ile) variant of IFNAR1 (Interferon alpha/beta receptor 1)
V4I (p.Val4Ile) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V4I (p.Val4Ile) variant details
- p.Val4Ile
- rs2083112232
- ClinGen CA410104869
- ClinVar RCV003040244
- Ensembl rs2083112232
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.01
- MetaLR 0.11
- MetaSVM -1.03
- CADD 6.90
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available