R34G (p.Arg34Gly) variant of SORL1 (Sortilin-related receptor)
R34G (p.Arg34Gly) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- gnomAD 11-121452431-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.26
- MetaLR 0.49
- MetaSVM -0.49
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available