F16L (p.Phe16Leu) variant of SORL1 (Sortilin-related receptor)
F16L (p.Phe16Leu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
F16L (p.Phe16Leu) variant details
- p.Phe16Leu
- gnomAD 11-121452377-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.18
- MetaLR 0.32
- MetaSVM -0.84
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available