R34W (p.Arg34Trp) variant of SORL1 (Sortilin-related receptor)
R34W (p.Arg34Trp) 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, published literature, and structural context.
R34W (p.Arg34Trp) variant details
- p.Arg34Trp
- gnomAD 11-121452431-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.25
- MetaLR 0.55
- MetaSVM -0.30
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available