R34R (p.Arg34Arg) variant of SORL1 (Sortilin-related receptor)
R34R (p.Arg34Arg) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R34R (p.Arg34Arg) variant details
- p.Arg34Arg
- rs747778796
- gnomAD 11-121452433-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.80
- Population evidence available
- Structural context available
- Literature evidence available