K160E (p.Lys160Glu) variant of PURA (Q00577)
K160E (p.Lys160Glu) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
K160E (p.Lys160Glu) variant details
- p.Lys160Glu
- rs2126749118
- ClinGen CA361490860
- ClinVar RCV001763857
- ClinVar RCV005603730
- Pathogenic
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.31
- MetaSVM -0.36
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)