D4H (p.Asp4His) variant of AIRE (Autoimmune regulator)
D4H (p.Asp4His) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D4H (p.Asp4His) variant details
- p.Asp4His
- gnomAD 21-44286016-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.58
- MetaLR 0.85
- MetaSVM 0.83
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available