L13V (p.Leu13Val) variant of AIRE (Autoimmune regulator)
L13V (p.Leu13Val) 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.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- gnomAD 21-44286043-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.53
- MetaLR 0.81
- MetaSVM 0.52
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available