S31W (p.Ser31Trp) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S31W (p.Ser31Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S31W (p.Ser31Trp) variant details
- p.Ser31Trp
- rs767168940
- ClinGen CA410094795
- ClinVar RCV001956643
- ExAC rs767168940
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0862
- REVEL 0.11
- CADD 0.39
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available