R8R (p.Arg8Arg) variant of SORL1 (Sortilin-related receptor)
R8R (p.Arg8Arg) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R8R (p.Arg8Arg) variant details
- p.Arg8Arg
- rs1327334637
- gnomAD 11-121452355-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available