W31L (p.Trp31Leu) variant of SORL1 (Sortilin-related receptor)
W31L (p.Trp31Leu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
W31L (p.Trp31Leu) variant details
- p.Trp31Leu
- gnomAD 11-121452423-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.30
- MetaLR 0.48
- MetaSVM -0.71
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available