L59H (p.Leu59His) variant of REEP1 (Q9H902)
L59H (p.Leu59His) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 structural context.
L59H (p.Leu59His) variant details
- p.Leu59His
- rs1553462741
- ClinGen CA347719903
- ClinVar RCV003388204
- Likely pathogenic
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 0.13
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 31)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available