A510V (p.Ala510Val) variant of SPG7 (Q9UQ90)
A510V (p.Ala510Val) in SPG7 (Q9UQ90) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spastic Paraplegia, Recessive; Mitochondrial DNA maintenance disorder; Possible. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
A510V (p.Ala510Val) variant details
- p.Ala510Val
- rs61755320
- ClinGen CA090884
- cosmic curated COSV51947
- ClinVar RCV000034858
- Pathogenic/Likely pathogenic
- Spastic Paraplegia, Recessive; Mitochondrial DNA maintenance disorder; Possible
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Spastic Paraplegia, Recessive; Mitochondrial DNA maintenance dis)
- EBI: Pathogenic (in SPG7)
- UniProt: Pathogenic (in SPG7)
- Most common in the African/African-American population (allele frequency 0.00041)
- Cited in: Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. (PMID 16534102)
- Cited in: Functional evaluation of paraplegin mutations by a yeast complementation assay. (PMID 20186691)