D56H (p.Asp56His) variant of REEP1 (Q9H902)
D56H (p.Asp56His) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary spastic paraplegia 31. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
D56H (p.Asp56His) variant details
- p.Asp56His
- rs1060503493
- ClinGen CA347719942
- ClinVar RCV001391637
- Ensembl rs1060503493
- Pathogenic
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Hereditary spastic paraplegia 31)
- EBI: Pathogenic (in SPG31)
- UniProt: Pathogenic (in SPG31)
- Structural context available