L12L (p.Leu12Leu) variant of SORL1 (Sortilin-related receptor)
L12L (p.Leu12Leu) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 11-121452367-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 14.80
- Population evidence available
- Structural context available
- Literature evidence available