Q10P (p.Gln10Pro) variant of PURA (Q00577)
Q10P (p.Gln10Pro) in PURA (Q00577) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
Q10P (p.Gln10Pro) variant details
- p.Gln10Pro
- TOPMed rs1269489196
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available