L27F (p.Leu27Phe) variant of SORL1 (Sortilin-related receptor)
L27F (p.Leu27Phe) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L27F (p.Leu27Phe) variant details
- p.Leu27Phe
- gnomAD 11-121452410-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.15
- MetaLR 0.50
- MetaSVM -0.57
- CADD 15.80
- PolyPhen-2 0.05
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available