D23N (p.Asp23Asn) variant of IFNGR1 (Interferon gamma receptor 1)
D23N (p.Asp23Asn) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Disseminated atypical mycobacterial infection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs1331566701
- ClinGen CA365776414
- ClinVar RCV001996726
- TOPMed rs1331566701
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.10
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available