R34M (p.Arg34Met) variant of SORL1 (Sortilin-related receptor)
R34M (p.Arg34Met) in SORL1 (Sortilin-related receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R34M (p.Arg34Met) variant details
- p.Arg34Met
- gnomAD 11-121452432-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.32
- MetaLR 0.51
- MetaSVM -0.42
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available