L64F (p.Leu64Phe) variant of ATP13A2 (Q9NQ11)
L64F (p.Leu64Phe) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L64F (p.Leu64Phe) variant details
- p.Leu64Phe
- rs769534201
- ClinGen CA637738
- ClinVar RCV002710242
- ExAC rs769534201
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.05
- CADD 23.40
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)