A33V (p.Ala33Val) variant of AIRE (Autoimmune regulator)
A33V (p.Ala33Val) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- gnomAD 21-44286104-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.65
- MetaLR 0.86
- MetaSVM 0.80
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available