V109I (p.Val109Ile) variant of CALM3 (Calmodulin-3)
V109I (p.Val109Ile) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V109I (p.Val109Ile) variant details
- p.Val109Ile
- rs1199451414
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10081
- gnomAD rs1199451414
- Uncertain significance
- Long QT syndrome 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.47
- MetaLR 0.61
- MetaSVM 0.37
- CADD 23.30
- PolyPhen-2 0.09
- SIFT 0.59
- ClinVar: Uncertain significance (Long QT syndrome 1; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available