L18V (p.Leu18Val) variant of SORL1 (Sortilin-related receptor)
L18V (p.Leu18Val) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 11-121452383-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.41
- MetaLR 0.68
- MetaSVM 0.45
- CADD 25.20
- PolyPhen-2 0.90
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available