R7G (p.Arg7Gly) variant of SORL1 (Sortilin-related receptor)
R7G (p.Arg7Gly) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- gnomAD 11-121452350-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.29
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available