M1V (p.Met1Val) variant of IFNGR2 (Interferon gamma receptor 2)
M1V (p.Met1Val) in IFNGR2 (Interferon gamma receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1316638883
- ClinGen CA410113851
- ClinVar RCV001268955
- Likely pathogenic
- Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- MetaLR 0.13
- MetaSVM -0.89
- PolyPhen-2 0.46
- SIFT 0.00
- MutPred 0.87
- ClinVar: Likely pathogenic (Immunodeficiency 28)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available