A14P (p.Ala14Pro) variant of PURA (Q00577)
A14P (p.Ala14Pro) in PURA (Q00577) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; PURA-re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- rs1046152089
- ClinGen CA128789388
- ClinVar RCV000691588
- ClinVar RCV002317918
- Conflicting interpretations
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; PURA-re
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.01)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)