K109R (p.Lys109Arg) variant of IFNGR1 (Interferon gamma receptor 1)
K109R (p.Lys109Arg) 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 0.14 / 1. The record also includes population frequency data and structural context.
K109R (p.Lys109Arg) variant details
- p.Lys109Arg
- rs754779431
- ClinGen CA4018995
- ClinVar RCV001935244
- ExAC rs754779431
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.05
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.20
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available