L7V (p.Leu7Val) variant of AIRE (Autoimmune regulator)
L7V (p.Leu7Val) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- Ensembl rs2040477515
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.55
- MetaLR 0.70
- MetaSVM 0.20
- CADD 14.00
- PolyPhen-2 0.35
- SIFT 0.13
- Population evidence available
- Structural context available