Y40C (p.Tyr40Cys) variant of IFNGR1 (Interferon gamma receptor 1)
Y40C (p.Tyr40Cys) 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 0.50 / 1. The record also includes population frequency data and structural context.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- rs1174089963
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10088
- TOPMed rs1174089963
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.41
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available