P7L (p.Pro7Leu) variant of ATP13A2 (Q9NQ11)
P7L (p.Pro7Leu) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- rs2077535736
- ClinGen CA338265790
- ClinVar RCV001939160
- Ensembl rs2077535736
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.10
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)