E9E (p.Glu9Glu) variant of SORL1 (Sortilin-related receptor)
E9E (p.Glu9Glu) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E9E (p.Glu9Glu) variant details
- p.Glu9Glu
- gnomAD 11-121452358-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 15.20
- Population evidence available
- Structural context available
- Literature evidence available