S24I (p.Ser24Ile) variant of AIRE (Autoimmune regulator)
S24I (p.Ser24Ile) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S24I (p.Ser24Ile) variant details
- p.Ser24Ile
- gnomAD 21-44286077-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.65
- MetaLR 0.76
- MetaSVM 0.52
- CADD 24.00
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available