E9G (p.Glu9Gly) variant of SORL1 (Sortilin-related receptor)
E9G (p.Glu9Gly) 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.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- gnomAD 11-121452357-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.38
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available