E9S (p.Glu9Ser) variant of SORL1 (Sortilin-related receptor)
E9S (p.Glu9Ser) in SORL1 (Sortilin-related receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E9S (p.Glu9Ser) variant details
- p.Glu9Ser
- gnomAD 11-121452353-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.528
- CADD 28.30
- Population evidence available
- Structural context available
- Literature evidence available