K16E (p.Lys16Glu) variant of TRPM4 (Q8TD43)
K16E (p.Lys16Glu) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Progressive familial heart block type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- TOPMed rs2041554005
- Uncertain significance
- Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.49
- ESM-1b 0.40
- AlphaMissense 0.40
- ClinVar: Uncertain significance (Progressive familial heart block type IB)
- UniProt: Uncertain significance
- Structural context available