L7P (p.Leu7Pro) variant of AIRE (Autoimmune regulator)
L7P (p.Leu7Pro) in AIRE (Autoimmune regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD 21-44286026-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.75
- MetaLR 0.90
- MetaSVM 0.87
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available