S24G (p.Ser24Gly) variant of AIRE (Autoimmune regulator)
S24G (p.Ser24Gly) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S24G (p.Ser24Gly) variant details
- p.Ser24Gly
- gnomAD 21-44286076-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.40
- MetaLR 0.66
- MetaSVM -0.05
- CADD 21.10
- PolyPhen-2 0.49
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available