R76W (p.Arg76Trp) variant of ATP13A2 (Q9NQ11)
R76W (p.Arg76Trp) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R76W (p.Arg76Trp) variant details
- p.Arg76Trp
- rs751715295
- ClinGen CA637726
- ClinVar RCV001925311
- ExAC rs751715295
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.16
- CADD 30.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)