E86K (p.Glu86Lys) variant of ATP13A2 (Q9NQ11)
E86K (p.Glu86Lys) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- rs1557715739
- ClinGen CA338264231
- ClinVar RCV002612433
- ClinVar RCV005425063
- Uncertain significance
- not provided; Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.19
- CADD 24.20
- PolyPhen-2 0.43
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Kufor-Rakeb syndrome; Autosomal recessive spastic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)