T42P (p.Thr42Pro) variant of TRPM4 (Q8TD43)
T42P (p.Thr42Pro) in TRPM4 (Q8TD43) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes structural context.
T42P (p.Thr42Pro) variant details
- p.Thr42Pro
- ExAC rs762111515
- TOPMed rs762111515
- gnomAD rs762111515
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available