E114K (p.Glu114Lys) variant of ATP13A2 (Q9NQ11)
E114K (p.Glu114Lys) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E114K (p.Glu114Lys) variant details
- p.Glu114Lys
- rs757224113
- ClinGen CA637683
- cosmic curated COSV10882
- ClinVar RCV002031042
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.07
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- 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)