Q50* (p.Gln50Ter) variant of POLG (DNA polymerase subunit gamma-1)
Q50* (p.Gln50Ter) in POLG (DNA polymerase subunit gamma-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q50* (p.Gln50Ter) variant details
- p.Gln50Ter
- cosmic curated COSV99174
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 29.60
- Population evidence available
- Structural context available