A20E (p.Ala20Glu) variant of SORL1 (Sortilin-related receptor)
A20E (p.Ala20Glu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- gnomAD 11-121452390-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.29
- MetaLR 0.48
- MetaSVM -0.53
- CADD 21.50
- PolyPhen-2 0.09
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available