A21S (p.Ala21Ser) variant of AIRE (Autoimmune regulator)
A21S (p.Ala21Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD rs1253173341
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.80
- MetaLR 0.93
- MetaSVM 1.04
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available