G83V (p.Gly83Val) variant of REEP1 (Q9H902)
G83V (p.Gly83Val) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary spastic paraplegia 31. The record also includes structural context.
G83V (p.Gly83Val) variant details
- p.Gly83Val
- rs2468842177
- ClinVar RCV004560465
- ClinVar RCV005000522
- Conflicting interpretations
- not provided; Hereditary spastic paraplegia 31
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary spastic paraplegia 31)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available