L18R (p.Leu18Arg) variant of SORL1 (Sortilin-related receptor)
L18R (p.Leu18Arg) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- gnomAD 11-121452384-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.61
- MetaLR 0.68
- MetaSVM 0.39
- CADD 28.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available