A18T (p.Ala18Thr) variant of IFNGR2 (Interferon gamma receptor 2)
A18T (p.Ala18Thr) in IFNGR2 (Interferon gamma receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD 21-33403595-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.08
- MetaLR 0.16
- MetaSVM -0.90
- CADD 21.20
- PolyPhen-2 0.80
- SIFT 0.45
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available