L27I (p.Leu27Ile) variant of SORL1 (Sortilin-related receptor)
L27I (p.Leu27Ile) 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.
L27I (p.Leu27Ile) variant details
- p.Leu27Ile
- gnomAD 11-121452410-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.15
- MetaLR 0.47
- MetaSVM -0.65
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available