V9M (p.Val9Met) variant of ATP13A2 (Q9NQ11)
V9M (p.Val9Met) 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; Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V9M (p.Val9Met) variant details
- p.Val9Met
- rs143579092
- ClinGen CA637792
- ClinVar RCV002021661
- ClinVar RCV003481253
- Uncertain significance
- not provided; Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.21
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Autosomal recessive spastic paraplegia type 78; Ku)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-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)