R4R (p.Arg4Arg) variant of SORL1 (Sortilin-related receptor)
R4R (p.Arg4Arg) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R4R (p.Arg4Arg) variant details
- p.Arg4Arg
- gnomAD 11-121452341-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available