D4G (p.Asp4Gly) variant of AIRE (Autoimmune regulator)
D4G (p.Asp4Gly) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D4G (p.Asp4Gly) variant details
- p.Asp4Gly
- gnomAD 21-44286017-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.57
- MetaLR 0.83
- MetaSVM 0.75
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available