W10* (p.Trp10Ter) variant of TRPM4 (Q8TD43)
W10* (p.Trp10Ter) in TRPM4 (Q8TD43) 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 0.69 / 1. The record also includes population frequency data and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs893456469
- ClinGen CA309425005
- ClinVar RCV001038669
- TOPMed rs893456469
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.685
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available