A76V (p.Ala76Val) variant of IFNGR1 (Interferon gamma receptor 1)
A76V (p.Ala76Val) 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.
A76V (p.Ala76Val) variant details
- p.Ala76Val
- rs761991376
- ClinGen CA4019005
- ClinVar RCV001917214
- ExAC rs761991376
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.08
- CADD 15.80
- PolyPhen-2 0.07
- SIFT 0.13
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available