W6* (p.Trp6Ter) variant of POLG (DNA polymerase subunit gamma-1)
W6* (p.Trp6Ter) in POLG (DNA polymerase subunit gamma-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
W6* (p.Trp6Ter) variant details
- p.Trp6Ter
- rs2509278357
- ClinGen CA393775418
- ClinVar RCV003131252
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available