L21M (p.Leu21Met) variant of SORL1 (Sortilin-related receptor)
L21M (p.Leu21Met) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L21M (p.Leu21Met) variant details
- p.Leu21Met
- gnomAD 11-121452392-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.29
- MetaLR 0.53
- MetaSVM -0.36
- CADD 23.00
- PolyPhen-2 0.50
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available