R7W (p.Arg7Trp) variant of SORL1 (Sortilin-related receptor)
R7W (p.Arg7Trp) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- gnomAD 11-121452350-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.40
- CADD 24.20
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available