V20M (p.Val20Met) variant of AIRE (Autoimmune regulator)
V20M (p.Val20Met) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- Ensembl rs2146375105
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.27
- MetaLR 0.42
- MetaSVM -0.38
- CADD 5.07
- PolyPhen-2 0.25
- SIFT 1.00
- Population evidence available
- Structural context available