Q55H (p.Gln55His) variant of IFNGR1 (Interferon gamma receptor 1)
Q55H (p.Gln55His) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q55H (p.Gln55His) variant details
- p.Gln55His
- NCI-TCGA Cosmic COSV6298
- cosmic curated COSV62989
- 1000Genomes rs544637873
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.11
- CADD 5.20
- PolyPhen-2 0.07
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available