T55K (p.Thr55Lys) variant of REEP1 (Q9H902)
T55K (p.Thr55Lys) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T55K (p.Thr55Lys) variant details
- p.Thr55Lys
- rs1677004351
- ClinGen CA347719949
- ClinVar RCV001063448
- ClinVar RCV002290992
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.93
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance (in SPG31)
- UniProt: Uncertain significance (in SPG31)
- Population evidence available
- Structural context available
- Cited in: Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). (PMID 18644145)
- Cited in: Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology. (PMID 24478229)