L18P (p.Leu18Pro) variant of SORL1 (Sortilin-related receptor)
L18P (p.Leu18Pro) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD rs1345706948
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.67
- CADD 28.80
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available