A31S (p.Ala31Ser) variant of AIRE (Autoimmune regulator)
A31S (p.Ala31Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A31S (p.Ala31Ser) variant details
- p.Ala31Ser
- gnomAD 21-44286097-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.29
- MetaLR 0.60
- MetaSVM -0.08
- CADD 13.40
- PolyPhen-2 0.18
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available