A5V (p.Ala5Val) variant of AIRE (Autoimmune regulator)
A5V (p.Ala5Val) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- gnomAD rs1236841505
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.24
- MetaLR 0.60
- MetaSVM -0.18
- CADD 16.80
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the South Asian population (allele frequency 7.6e-05)
- Structural context available