G37A (p.Gly37Ala) variant of PURA (Q00577)
G37A (p.Gly37Ala) 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; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G37A (p.Gly37Ala) variant details
- p.Gly37Ala
- rs1430796646
- ClinGen CA361489327
- ClinVar RCV000693552
- ClinVar RCV001771960
- Conflicting interpretations
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (PURA-related severe neonatal hypotonia-seizures-encephalopathy s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)