L18M (p.Leu18Met) variant of SORL1 (Sortilin-related receptor)
L18M (p.Leu18Met) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 11-121452383-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.43
- MetaLR 0.69
- MetaSVM 0.47
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available