A18D (p.Ala18Asp) variant of IFNGR2 (Interferon gamma receptor 2)
A18D (p.Ala18Asp) in IFNGR2 (Interferon gamma receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 21-33403596-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.88
- CADD 15.00
- PolyPhen-2 0.89
- SIFT 0.26
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available