I112V (p.Ile112Val) variant of ATP13A2 (Q9NQ11)
I112V (p.Ile112Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- rs747340052
- ClinGen CA637688
- ClinVar RCV001920142
- ExAC rs747340052
- Uncertain significance
- Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78
- Missense
- Variant Prioritization Score for Impact Estimate 0.0818
- REVEL 0.03
- CADD 9.81
- PolyPhen-2 0.00
- SIFT 1.00
- 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 7.2e-06)
- 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)