A2S (p.Ala2Ser) variant of AIRE (Autoimmune regulator)
A2S (p.Ala2Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 21-44286010-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.14
- MetaLR 0.45
- MetaSVM -0.43
- CADD 4.38
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available