K17E (p.Lys17Glu) variant of TRPM4 (Q8TD43)
K17E (p.Lys17Glu) 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 0.86 / 1. The record also includes structural context.
K17E (p.Lys17Glu) variant details
- p.Lys17Glu
- rs2514024580
- ClinGen CA406787952
- ClinVar RCV004522198
- ClinVar RCV005100598
- Uncertain significance
- Progressive familial heart block type IB; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- ESM-1b 1.00
- AlphaMissense 0.69
- ClinVar: Uncertain significance (Progressive familial heart block type IB; Cardiovascular phenoty)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available