E7K (p.Glu7Lys) variant of TRPM4 (Q8TD43)
E7K (p.Glu7Lys) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of TRPM4-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- rs267607142
- ClinGen CA250505
- ClinVar RCV000003968
- ClinVar RCV004532279
- Likely pathogenic
- TRPM4-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.18
- ClinVar: Likely pathogenic (TRPM4-related disorder)
- EBI: Pathogenic (in PFHB1B)
- UniProt: Pathogenic (in PFHB1B)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. (PMID 19726882)
- Cited in: Progressive familial heart block--two types. (PMID 897853)