R66C (p.Arg66Cys) variant of ATP13A2 (Q9NQ11)
R66C (p.Arg66Cys) 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; Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R66C (p.Arg66Cys) variant details
- p.Arg66Cys
- rs768327980
- ClinGen CA338264536
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10045
- Uncertain significance
- not provided; Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.21
- CADD 28.40
- PolyPhen-2 0.85
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; Autosomal recessive spastic paraplegia type 78; Ku)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-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)