R9L (p.Arg9Leu) variant of AIRE (Autoimmune regulator)
R9L (p.Arg9Leu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD 21-44286032-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.40
- MetaLR 0.61
- MetaSVM -0.19
- CADD 16.20
- PolyPhen-2 0.11
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available