F14V (p.Phe14Val) variant of SORL1 (Sortilin-related receptor)
F14V (p.Phe14Val) in SORL1 (Sortilin-related receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
F14V (p.Phe14Val) variant details
- p.Phe14Val
- rs2496711790
- ClinGen CA383283530
- ClinVar RCV004457451
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available