P4L (p.Pro4Leu) variant of TRPM4 (Q8TD43)
P4L (p.Pro4Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- 1000Genomes rs1318656879
- TOPMed rs1318656879
- gnomAD rs1318656879
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available