V10I (p.Val10Ile) variant of IFNGR1 (Interferon gamma receptor 1)
V10I (p.Val10Ile) 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 structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs2114527746
- ClinGen CA365776500
- ClinVar RCV003762549
- Uncertain significance
- Disseminated atypical mycobacterial infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.10
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.40
- MutPred 0.56
- ClinVar: Uncertain significance (Disseminated atypical mycobacterial infection)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available