T131A (p.Thr131Ala) variant of REEP1 (Q9H902)
T131A (p.Thr131Ala) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T131A (p.Thr131Ala) variant details
- p.Thr131Ala
- rs1558889637
- ClinGen CA347715894
- ClinVar RCV000698241
- TOPMed rs1558889637
- Uncertain significance
- Hereditary spastic paraplegia 31
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 31)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)