H44P (p.His44Pro) variant of TRPM4 (Q8TD43)
H44P (p.His44Pro) 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 0.75 / 1. The record also includes structural context.
H44P (p.His44Pro) variant details
- p.His44Pro
- Ensembl rs1600400452
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.64
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available