A46V (p.Ala46Val) variant of REEP1 (Q9H902)
A46V (p.Ala46Val) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary spastic paraplegia 31. The record also includes published literature and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- rs2468890749
- ClinGen CA347720043
- ClinVar RCV003498506
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)