N61S (p.Asn61Ser) variant of CALM1 (Calmodulin-1)
N61S (p.Asn61Ser) in CALM1 (Calmodulin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
N61S (p.Asn61Ser) variant details
- p.Asn61Ser
- rs2103825319
- ClinGen CA346719643
- ClinVar RCV001873853
- Ensembl rs2103825319
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.22
- MetaLR 0.49
- MetaSVM 0.03
- SIFT 0.03
- MutPred 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)