G125S (p.Gly125Ser) variant of REEP1 (Q9H902)
G125S (p.Gly125Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G125S (p.Gly125Ser) variant details
- p.Gly125Ser
- rs1375850288
- ClinGen CA347716016
- ClinVar RCV000686564
- TOPMed rs1375850288
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.65
- CADD 24.30
- PolyPhen-2 0.87
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)