H14N (p.His14Asn) variant of AIRE (Autoimmune regulator)
H14N (p.His14Asn) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H14N (p.His14Asn) variant details
- p.His14Asn
- gnomAD 21-44286046-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.35
- MetaLR 0.60
- MetaSVM -0.10
- CADD 18.40
- PolyPhen-2 0.39
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available