W4G (p.Trp4Gly) variant of REEP1 (Q9H902)
W4G (p.Trp4Gly) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases; Hereditary spastic paraplegia 31. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
W4G (p.Trp4Gly) variant details
- p.Trp4Gly
- rs863224189
- ClinGen CA319904
- ClinVar RCV000195547
- ClinVar RCV000641687
- Uncertain significance
- not provided; Inborn genetic diseases; Hereditary spastic paraplegia 31
- Missense
- MetaLR 0.55
- MetaSVM -0.39
- SIFT 0.00
- MutPred 0.50
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases; Hereditary spastic parapl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)