W23* (p.Trp23Ter) variant of POLD1 (P28340)
W23* (p.Trp23Ter) in POLD1 (P28340) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
W23* (p.Trp23Ter) variant details
- p.Trp23Ter
- rs2038473555
- ClinGen CA406970073
- ClinVar RCV001310025
- Ensembl rs2038473555
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.30
- MetaLR 0.14
- MetaSVM -1.01
- PolyPhen-2 0.99
- SIFT 0.20
- MutPred 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available