L22M (p.Leu22Met) variant of SORL1 (Sortilin-related receptor)
L22M (p.Leu22Met) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- TOPMed rs866322118
- gnomAD rs866322118
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.29
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available