G62R (p.Gly62Arg) variant of CALM3 (Calmodulin-3)
G62R (p.Gly62Arg) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G62R (p.Gly62Arg) variant details
- p.Gly62Arg
- cosmic curated COSV52194
- ExAC rs762484332
- TOPMed rs762484332
- gnomAD rs762484332
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.87
- MetaLR 0.78
- MetaSVM 0.77
- CADD 27.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available