N96D (p.Asn96Asp) variant of IFNGR1 (Interferon gamma receptor 1)
N96D (p.Asn96Asp) 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 0.15 / 1. The record also includes population frequency data and structural context.
N96D (p.Asn96Asp) variant details
- p.Asn96Asp
- rs755616208
- ClinGen CA4018998
- ClinVar RCV002234759
- ExAC rs755616208
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.21
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available