R129Q (p.Arg129Gln) variant of ATP13A2 (Q9NQ11)
R129Q (p.Arg129Gln) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R129Q (p.Arg129Gln) variant details
- p.Arg129Gln
- rs762570832
- ClinGen CA637655
- ClinVar RCV001997137
- ExAC rs762570832
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.06
- CADD 22.30
- PolyPhen-2 0.68
- SIFT 0.09
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)