V24M (p.Val24Met) variant of IFNAR2 (Interferon alpha/beta receptor 2)
V24M (p.Val24Met) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
V24M (p.Val24Met) variant details
- p.Val24Met
- rs561488102
- ClinGen CA10005532
- cosmic curated COSV59750
- ClinVar RCV001884860
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- REVEL 0.10
- CADD 0.07
- PolyPhen-2 0.01
- SIFT 0.28
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available