S31L (p.Ser31Leu) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S31L (p.Ser31Leu) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- cosmic curated COSV59751
- ExAC rs767168940
- TOPMed rs767168940
- gnomAD rs767168940
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0692
- REVEL 0.07
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available