R7R (p.Arg7Arg) variant of SORL1 (Sortilin-related receptor)
R7R (p.Arg7Arg) in SORL1 (Sortilin-related receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R7R (p.Arg7Arg) variant details
- p.Arg7Arg
- gnomAD 11-121452352-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 16.10
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available