G25V (p.Gly25Val) variant of SORL1 (Sortilin-related receptor)
G25V (p.Gly25Val) 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.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- gnomAD 11-121452405-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.25
- MetaLR 0.48
- MetaSVM -0.52
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available