I70R (p.Ile70Arg) variant of REEP1 (Q9H902)
I70R (p.Ile70Arg) 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 0.90 / 1. The record also includes published literature and structural context.
I70R (p.Ile70Arg) variant details
- p.Ile70Arg
- rs1676462330
- ClinGen CA347717543
- ClinVar RCV001052430
- Ensembl rs1676462330
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.81
- ClinVar: Uncertain significance (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)