G504R (p.Gly504Arg) variant of ATP13A2 (Q9NQ11)
G504R (p.Gly504Arg) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome; Neurodegen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G504R (p.Gly504Arg) variant details
- p.Gly504Arg
- rs121918227
- ClinGen CA251716
- ClinVar RCV000001280
- ClinVar RCV001851533
- Pathogenic/Likely pathogenic
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome; Neurodegen
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.71
- CADD 23.60
- PolyPhen-2 0.34
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Pathogenic (in KRS)
- UniProt: Pathogenic (in KRS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PMID 17485642)
- Cited in: Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset… (PMID 22768177)