D34G (p.Asp34Gly) variant of AIRE (Autoimmune regulator)
D34G (p.Asp34Gly) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D34G (p.Asp34Gly) variant details
- p.Asp34Gly
- gnomAD 21-44286107-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.86
- MetaLR 0.94
- MetaSVM 1.06
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available