C28W (p.Cys28Trp) variant of SORL1 (Sortilin-related receptor)
C28W (p.Cys28Trp) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C28W (p.Cys28Trp) variant details
- p.Cys28Trp
- 1000Genomes rs200230538
- ExAC rs200230538
- TOPMed rs200230538
- gnomAD rs200230538
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available