H23R (p.His23Arg) variant of PURA (Q00577)
H23R (p.His23Arg) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H23R (p.His23Arg) variant details
- p.His23Arg
- rs1319701255
- ClinGen CA361489174
- ClinVar RCV002148319
- gnomAD rs1319701255
- Likely benign
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Likely benign (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)