Y66C (p.Tyr66Cys) variant of IFNGR1 (Interferon gamma receptor 1)
Y66C (p.Tyr66Cys) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in IMD27A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y66C (p.Tyr66Cys) variant details
- p.Tyr66Cys
- UniProt VAR 080063
- Pathogenic
- in IMD27A
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.70
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.03
- EBI: Pathogenic (in IMD27A)
- UniProt: Pathogenic (in IMD27A)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies. (PMID 15589309)
- Cited in: Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1. (PMID 20015550)