W12* (p.Trp12Ter) variant of ABCA4 (P78363)
W12* (p.Trp12Ter) in ABCA4 (P78363) 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 0.88 / 1. The record also includes structural context.
W12* (p.Trp12Ter) variant details
- p.Trp12Ter
- rs761209432
- NCI-TCGA Cosmic COSV1009
- ClinGen CA26845230
- ClinVar RCV000986377
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.85
- MetaLR 0.87
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.70
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available