S24C (p.Ser24Cys) variant of AIRE (Autoimmune regulator)
S24C (p.Ser24Cys) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S24C (p.Ser24Cys) variant details
- p.Ser24Cys
- gnomAD 21-44286076-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.32
- MetaLR 0.63
- MetaSVM -0.26
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available