R15P (p.Arg15Pro) variant of AIRE (Autoimmune regulator)
R15P (p.Arg15Pro) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- gnomAD 21-44286050-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.89
- MetaLR 0.87
- MetaSVM 0.91
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available