G7A (p.Gly7Ala) variant of PURA (Q00577)
G7A (p.Gly7Ala) 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 0.23 / 1. The record also includes published literature and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- rs2479503541
- ClinGen CA2739275107
- ClinVar RCV003749397
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- ESM-1b 0.00
- AlphaMissense 0.52
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PURA-Related Neurodevelopmental Disorders. (PMID 28448108)