E105Q (p.Glu105Gln) variant of CALM3 (Calmodulin-3)
E105Q (p.Glu105Gln) in CALM3 (Calmodulin-3) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
E105Q (p.Glu105Gln) variant details
- p.Glu105Gln
- rs2465707237
- ClinGen CA346719247
- ClinVar RCV003224832
- cosmic curated COSV52194
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)