L18Q (p.Leu18Gln) variant of SORL1 (Sortilin-related receptor)
L18Q (p.Leu18Gln) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- gnomAD 11-121452384-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.55
- MetaLR 0.68
- MetaSVM 0.39
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available