E29D (p.Glu29Asp) variant of SORL1 (Sortilin-related receptor)
E29D (p.Glu29Asp) 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, published literature, and structural context.
E29D (p.Glu29Asp) variant details
- p.Glu29Asp
- gnomAD 11-121452418-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.10
- MetaLR 0.42
- MetaSVM -0.66
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available