L12F (p.Leu12Phe) variant of SORL1 (Sortilin-related receptor)
L12F (p.Leu12Phe) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- gnomAD 11-121452365-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.23
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available