V22E (p.Val22Glu) variant of AIRE (Autoimmune regulator)
V22E (p.Val22Glu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V22E (p.Val22Glu) variant details
- p.Val22Glu
- gnomAD 21-44286071-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.78
- MetaLR 0.87
- MetaSVM 0.89
- CADD 25.30
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available