P8L (p.Pro8Leu) variant of IFNGR1 (Interferon gamma receptor 1)
P8L (p.Pro8Leu) in IFNGR1 (Interferon gamma receptor 1) is a missense change. Clinical records from ClinVar 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 0.20 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- TOPMed rs1779789545
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.19
- CADD 7.02
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available