S24N (p.Ser24Asn) variant of AIRE (Autoimmune regulator)
S24N (p.Ser24Asn) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- gnomAD 21-44286077-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.43
- MetaLR 0.74
- MetaSVM 0.39
- CADD 22.60
- PolyPhen-2 0.81
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available