L35P (p.Leu35Pro) variant of SORL1 (Sortilin-related receptor)
L35P (p.Leu35Pro) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L35P (p.Leu35Pro) variant details
- p.Leu35Pro
- gnomAD 11-121452435-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.42
- MetaLR 0.52
- MetaSVM -0.30
- CADD 24.50
- PolyPhen-2 0.14
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available