E9K (p.Glu9Lys) variant of SORL1 (Sortilin-related receptor)
E9K (p.Glu9Lys) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- gnomAD 11-121452356-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.41
- CADD 28.70
- PolyPhen-2 0.90
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available