R4W (p.Arg4Trp) variant of SORL1 (Sortilin-related receptor)
R4W (p.Arg4Trp) in SORL1 (Sortilin-related receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- TOPMed rs1179499363
- gnomAD rs1179499363
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.35
- CADD 24.90
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available