T517I (p.Thr517Ile) variant of ATP13A2 (Q9NQ11)
T517I (p.Thr517Ile) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive spastic paraplegia type 78. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T517I (p.Thr517Ile) variant details
- p.Thr517Ile
- rs1057519291
- ClinGen CA16043959
- cosmic curated COSV10519
- ClinVar RCV000415515
- Pathogenic
- Autosomal recessive spastic paraplegia type 78
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive spastic paraplegia type 78)
- EBI: Pathogenic (in SPG78)
- UniProt: Pathogenic (in SPG78)
- Population evidence available
- Structural context available
- Cited in: Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity. (PMID 22442086)
- Cited in: Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). (PMID 28137957)