L35M (p.Leu35Met) variant of SORL1 (Sortilin-related receptor)
L35M (p.Leu35Met) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L35M (p.Leu35Met) variant details
- p.Leu35Met
- gnomAD 11-121452434-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- MetaLR 0.59
- MetaSVM -0.20
- CADD 22.70
- PolyPhen-2 0.33
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available