S5S (p.Ser5Ser) variant of SORL1 (Sortilin-related receptor)
S5S (p.Ser5Ser) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- gnomAD 11-121452346-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 16.00
- Population evidence available
- Structural context available
- Literature evidence available