A19S (p.Ala19Ser) variant of AIRE (Autoimmune regulator)
A19S (p.Ala19Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 21-44286061-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.47
- MetaLR 0.84
- MetaSVM 0.64
- CADD 22.20
- PolyPhen-2 1.00
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available