F54V (p.Phe54Val) variant of REEP1 (Q9H902)
F54V (p.Phe54Val) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronopathy, distal hereditary motor, type 5B. The record also includes structural context.
F54V (p.Phe54Val) variant details
- p.Phe54Val
- rs2468890474
- ClinGen CA347719968
- ClinVar RCV003148371
- Uncertain significance
- Neuronopathy, distal hereditary motor, type 5B
- Missense
- ClinVar: Uncertain significance (Neuronopathy, distal hereditary motor, type 5B)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available