A26D (p.Ala26Asp) variant of SORL1 (Sortilin-related receptor)
A26D (p.Ala26Asp) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A26D (p.Ala26Asp) variant details
- p.Ala26Asp
- gnomAD 11-121452408-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.23
- MetaLR 0.51
- MetaSVM -0.27
- CADD 23.90
- PolyPhen-2 0.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available