R16S (p.Arg16Ser) variant of IFNGR1 (Interferon gamma receptor 1)
R16S (p.Arg16Ser) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- 1000Genomes rs11575931
- ESP rs11575931
- ExAC rs11575931
- TOPMed rs11575931
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.23
- CADD 7.44
- PolyPhen-2 0.01
- SIFT 0.48
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available