V22A (p.Val22Ala) variant of AIRE (Autoimmune regulator)
V22A (p.Val22Ala) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- gnomAD 21-44286071-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.54
- MetaLR 0.79
- MetaSVM 0.67
- CADD 24.50
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available