V61A (p.Val61Ala) variant of IFNGR1 (Interferon gamma receptor 1)
V61A (p.Val61Ala) 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 0.45 / 1. The record also includes population frequency data and structural context.
V61A (p.Val61Ala) variant details
- p.Val61Ala
- rs121912715
- ClinGen CA4019031
- ClinVar RCV003596726
- ExAC rs121912715
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.52
- AlphaMissense 0.88
- MetaLR 0.61
- MetaSVM -0.14
- CADD 14.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Pathogenic (in IMD27A)
- UniProt: Pathogenic (in IMD27A)
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available