H30N (p.His30Asn) variant of AIRE (Autoimmune regulator)
H30N (p.His30Asn) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H30N (p.His30Asn) variant details
- p.His30Asn
- gnomAD 21-44286094-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.71
- MetaLR 0.84
- MetaSVM 0.84
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available