R76Q (p.Arg76Gln) variant of ATP13A2 (Q9NQ11)
R76Q (p.Arg76Gln) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R76Q (p.Arg76Gln) variant details
- p.Arg76Gln
- rs536805463
- ClinGen CA637724
- ClinVar RCV002292730
- ClinVar RCV003097817
- Uncertain significance
- not provided; Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.09
- CADD 23.80
- PolyPhen-2 0.17
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Kufor-Rakeb syndrome; Autosomal recessive spastic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. (PMID 23279440)