G25R (p.Gly25Arg) variant of SORL1 (Sortilin-related receptor)
G25R (p.Gly25Arg) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G25R (p.Gly25Arg) variant details
- p.Gly25Arg
- gnomAD 11-121452404-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.32
- MetaLR 0.46
- MetaSVM -0.52
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available