G25E (p.Gly25Glu) variant of SORL1 (Sortilin-related receptor)
G25E (p.Gly25Glu) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G25E (p.Gly25Glu) variant details
- p.Gly25Glu
- gnomAD 11-121452405-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.25
- MetaLR 0.48
- MetaSVM -0.51
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available