L117S (p.Leu117Ser) variant of CALM3 (Calmodulin-3)
L117S (p.Leu117Ser) in CALM3 (Calmodulin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
L117S (p.Leu117Ser) variant details
- p.Leu117Ser
- rs2465707170
- ClinGen CA346719160
- ClinVar RCV003210169
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)