V20L (p.Val20Leu) variant of AIRE (Autoimmune regulator)
V20L (p.Val20Leu) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- gnomAD 21-44286064-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.27
- MetaLR 0.62
- MetaSVM -0.17
- CADD 9.46
- PolyPhen-2 0.16
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available