H35N (p.His35Asn) variant of AIRE (Autoimmune regulator)
H35N (p.His35Asn) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
H35N (p.His35Asn) variant details
- p.His35Asn
- gnomAD 21-44286109-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.60
- MetaLR 0.84
- MetaSVM 0.74
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available