E29E (p.Glu29Glu) variant of SORL1 (Sortilin-related receptor)
E29E (p.Glu29Glu) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E29E (p.Glu29Glu) variant details
- p.Glu29Glu
- gnomAD 11-121452418-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available