P26L (p.Pro26Leu) variant of IFNGR1 (Interferon gamma receptor 1)
P26L (p.Pro26Leu) 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 0.16 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs768232887
- ClinGen CA4019097
- ClinVar RCV002235547
- ExAC rs768232887
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.18
- CADD 9.20
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available