G16V (p.Gly16Val) variant of PURA (Q00577)
G16V (p.Gly16Val) in PURA (Q00577) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G16V (p.Gly16Val) variant details
- p.Gly16Val
- gnomAD 5-140114225-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available