G34R (p.Gly34Arg) variant of PURA (Q00577)
G34R (p.Gly34Arg) in PURA (Q00577) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- rs1581036073
- ClinGen CA2580072958
- ClinVar RCV002285247
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- ESM-1b 1.00
- AlphaMissense 0.34
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)