L18L (p.Leu18Leu) variant of SORL1 (Sortilin-related receptor)
L18L (p.Leu18Leu) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs1252464729
- gnomAD 11-121452383-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 15.30
- Population evidence available
- Structural context available
- Literature evidence available