L96P (p.Leu96Pro) variant of REEP1 (Q9H902)
L96P (p.Leu96Pro) 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 0.93 / 1. The record also includes published literature and structural context.
L96P (p.Leu96Pro) variant details
- p.Leu96Pro
- rs1553461473
- ClinGen CA347717002
- ClinVar RCV000641684
- ClinVar RCV003162889
- Uncertain significance
- Inborn genetic diseases; Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- 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)