R7M (p.Arg7Met) variant of SORL1 (Sortilin-related receptor)
R7M (p.Arg7Met) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R7M (p.Arg7Met) variant details
- p.Arg7Met
- gnomAD 11-121452351-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.35
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available