V22M (p.Val22Met) variant of AIRE (Autoimmune regulator)
V22M (p.Val22Met) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- ExAC rs773373725
- TOPMed rs773373725
- gnomAD rs773373725
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.54
- MetaLR 0.83
- MetaSVM 0.70
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00018)
- Structural context available