G877R (p.Gly877Arg) variant of ATP13A2 (Q9NQ11)
G877R (p.Gly877Arg) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kufor-Rakeb syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G877R (p.Gly877Arg) variant details
- p.Gly877Arg
- rs144701072
- ClinGen CA264800
- cosmic curated COSV10045
- ClinVar RCV000056336
- Pathogenic
- Kufor-Rakeb syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Kufor-Rakeb syndrome)
- EBI: Pathogenic (in KRS)
- UniProt: Pathogenic (in KRS)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability. (PMID 20853184)
- Cited in: Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset… (PMID 22768177)