A2V (p.Ala2Val) variant of IFNGR1 (Interferon gamma receptor 1)
A2V (p.Ala2Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs121913172
- ClinGen CA230516
- ClinVar RCV000097418
- ClinVar RCV002514552
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.28
- AlphaMissense 0.17
- MetaLR 0.27
- MetaSVM -0.65
- CADD 17.80
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available