T49P (p.Thr49Pro) variant of REEP1 (Q9H902)
T49P (p.Thr49Pro) in REEP1 (Q9H902) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
T49P (p.Thr49Pro) variant details
- p.Thr49Pro
- rs1433490355
- ClinGen CA347720019
- ClinVar RCV001391476
- TOPMed rs1433490355
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.34
- MetaLR 0.88
- MetaSVM 0.99
- PolyPhen-2 0.39
- SIFT 0.01
- EVE 0.29
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available