Q45* (p.Gln45Ter) variant of ERCC3 (P19447)
Q45* (p.Gln45Ter) in ERCC3 (P19447) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
Q45* (p.Gln45Ter) variant details
- p.Gln45Ter
- rs1685354796
- ClinGen CA348392201
- ClinVar RCV003551022
- gnomAD rs1685354796
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.08
- MetaLR 0.18
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.82
- EVE 0.08
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available