L15I (p.Leu15Ile) variant of SORL1 (Sortilin-related receptor)
L15I (p.Leu15Ile) 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.
L15I (p.Leu15Ile) variant details
- p.Leu15Ile
- gnomAD 11-121452374-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.27
- CADD 23.20
- PolyPhen-2 0.90
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available