L59P (p.Leu59Pro) variant of REEP1 (Q9H902)
L59P (p.Leu59Pro) 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 0.82 / 1. The record also includes population frequency data and structural context.
L59P (p.Leu59Pro) variant details
- p.Leu59Pro
- rs1553462741
- ClinGen CA347719901
- ClinVar RCV000641685
- Ensembl rs1553462741
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.94
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.02
- CADD 25.30
- PolyPhen-2 0.13
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available