D3D (p.Asp3Asp) variant of PURA (Q00577)
D3D (p.Asp3Asp) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D3D (p.Asp3Asp) variant details
- p.Asp3Asp
- gnomAD 5-140114190-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available