F41S (p.Phe41Ser) variant of IFNAR2 (Interferon alpha/beta receptor 2)
F41S (p.Phe41Ser) 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 0.36 / 1. The record also includes population frequency data and structural context.
F41S (p.Phe41Ser) variant details
- p.Phe41Ser
- rs149204840
- ClinGen CA10005563
- ClinVar RCV002593953
- ClinVar RCV004065604
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.36
- CADD 22.30
- PolyPhen-2 0.85
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available