I6L (p.Ile6Leu) variant of REEP1 (Q9H902)
I6L (p.Ile6Leu) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
I6L (p.Ile6Leu) variant details
- p.Ile6Leu
- rs1681106072
- ClinGen CA347725514
- ClinVar RCV001296769
- ClinVar RCV006372455
- Uncertain significance
- Inborn genetic diseases; Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.09
- MetaLR 0.56
- MetaSVM -0.34
- SIFT 0.03
- MutPred 0.51
- ClinVar: Uncertain significance (Inborn genetic diseases; 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)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)