D4R (p.Asp4Arg) variant of AIRE (Autoimmune regulator)
D4R (p.Asp4Arg) in AIRE (Autoimmune regulator) is a protein-truncating 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.
D4R (p.Asp4Arg) variant details
- p.Asp4Arg
- gnomAD 21-44286011-CGACG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available