A5E (p.Ala5Glu) variant of AIRE (Autoimmune regulator)
A5E (p.Ala5Glu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD 21-44286020-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- MetaLR 0.71
- MetaSVM 0.03
- CADD 20.00
- PolyPhen-2 0.63
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available