A2T (p.Ala2Thr) variant of SPG7 (Q9UQ90)
A2T (p.Ala2Thr) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs535030441
- ClinGen CA321845
- ClinVar RCV000817246
- ClinVar RCV001722098
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 23.00
- PolyPhen-2 0.35
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Likely benign (in dbSNP:rs535030441)
- UniProt: Likely benign (in dbSNP:rs535030441)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Cited in: Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. (PMID 16534102)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)