R7S (p.Arg7Ser) variant of SORL1 (Sortilin-related receptor)
R7S (p.Arg7Ser) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- ExAC rs767702195
- gnomAD rs767702195
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the South Asian population (allele frequency 5e-05)
- Structural context available