S24R (p.Ser24Arg) variant of AIRE (Autoimmune regulator)
S24R (p.Ser24Arg) 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.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- gnomAD 21-44286078-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.43
- MetaLR 0.77
- MetaSVM 0.36
- CADD 23.40
- PolyPhen-2 0.93
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available