Q10L (p.Gln10Leu) variant of PURA (Q00577)
Q10L (p.Gln10Leu) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
Q10L (p.Gln10Leu) variant details
- p.Gln10Leu
- rs1269489196
- ClinGen CA361489069
- ClinVar RCV003750168
- Likely benign
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.42
- MetaSVM -0.51
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Likely benign (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)