E9D (p.Glu9Asp) variant of SORL1 (Sortilin-related receptor)
E9D (p.Glu9Asp) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- gnomAD 11-121452358-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.90
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available