M854R (p.Met854Arg) variant of ATP13A2 (Q9NQ11)
M854R (p.Met854Arg) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
M854R (p.Met854Arg) variant details
- p.Met854Arg
- rs587777053
- ClinGen CA264798
- ClinVar RCV000056335
- UniProt VAR 070194
- Pathogenic
- Kufor-Rakeb syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Kufor-Rakeb syndrome)
- 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: Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. (PMID 22388936)
- Cited in: Familial juvenile Parkinsonism. (PMID 495089)