G12V (p.Gly12Val) variant of PURA (Q00577)
G12V (p.Gly12Val) in PURA (Q00577) is a protein-truncating change. 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.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 5-140114214-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available