A33S (p.Ala33Ser) variant of AIRE (Autoimmune regulator)
A33S (p.Ala33Ser) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- gnomAD 21-44286103-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.64
- MetaLR 0.87
- MetaSVM 0.89
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available