T131I (p.Thr131Ile) variant of REEP1 (Q9H902)
T131I (p.Thr131Ile) 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 0.48 / 1. The record also includes published literature and structural context.
T131I (p.Thr131Ile) variant details
- p.Thr131Ile
- rs1553461131
- ClinGen CA347715883
- ClinVar RCV000641682
- Ensembl rs1553461131
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.93
- MetaLR 0.64
- MetaSVM 0.04
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.25
- 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)