L77F (p.Leu77Phe) variant of ATP13A2 (Q9NQ11)
L77F (p.Leu77Phe) 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; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L77F (p.Leu77Phe) variant details
- p.Leu77Phe
- rs763004392
- ClinGen CA637723
- ClinVar RCV000417817
- ClinVar RCV001865371
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia typ)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)