R8M (p.Arg8Met) variant of SORL1 (Sortilin-related receptor)
R8M (p.Arg8Met) in SORL1 (Sortilin-related receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R8M (p.Arg8Met) variant details
- p.Arg8Met
- NCI-TCGA Cosmic COSV9949
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.39
- CADD 23.20
- PolyPhen-2 0.24
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available