E5Q (p.Glu5Gln) variant of TRPM4 (Q8TD43)
E5Q (p.Glu5Gln) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Progressive familial heart block type IB; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- TOPMed rs999572673
- gnomAD rs999572673
- Uncertain significance
- Progressive familial heart block type IB; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.13
- ClinVar: Uncertain significance (Progressive familial heart block type IB; Cardiovascular phenoty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available