A31V (p.Ala31Val) variant of AIRE (Autoimmune regulator)
A31V (p.Ala31Val) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- gnomAD 21-44286098-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.50
- MetaLR 0.80
- MetaSVM 0.65
- CADD 23.80
- PolyPhen-2 0.87
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available