S97P (p.Ser97Pro) variant of REEP1 (Q9H902)
S97P (p.Ser97Pro) 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 0.43 / 1. The record also includes published literature and structural context.
S97P (p.Ser97Pro) variant details
- p.Ser97Pro
- rs1558891694
- ClinGen CA347716997
- ClinVar RCV000701951
- gnomAD rs1558891694
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.16
- MetaLR 0.54
- MetaSVM -0.20
- PolyPhen-2 0.02
- SIFT 0.10
- EVE 0.14
- 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)