I25V (p.Ile25Val) variant of ATP13A2 (Q9NQ11)
I25V (p.Ile25Val) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
I25V (p.Ile25Val) variant details
- p.Ile25Val
- rs762253735
- ClinGen CA637784
- ClinVar RCV002938128
- ExAC rs762253735
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.29
- CADD 7.27
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)