A6G (p.Ala6Gly) variant of AIRE (Autoimmune regulator)
A6G (p.Ala6Gly) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- gnomAD 21-44286023-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.18
- MetaLR 0.46
- MetaSVM -0.44
- CADD 0.14
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available