A5S (p.Ala5Ser) variant of AIRE (Autoimmune regulator)
A5S (p.Ala5Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A5S (p.Ala5Ser) variant details
- p.Ala5Ser
- gnomAD 21-44286019-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.23
- MetaLR 0.55
- MetaSVM -0.37
- CADD 7.44
- PolyPhen-2 0.30
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available