E91K (p.Glu91Lys) variant of ATP13A2 (Q9NQ11)
E91K (p.Glu91Lys) 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; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E91K (p.Glu91Lys) variant details
- p.Glu91Lys
- rs778193284
- ClinGen CA637713
- cosmic curated COSV10439
- ClinVar RCV003070526
- Uncertain significance
- Autosomal recessive spastic paraplegia type 78; Kufor-Rakeb syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.11
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.26
- 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 0.00019)
- 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)