A103V (p.Ala103Val) variant of CALM3 (Calmodulin-3)
A103V (p.Ala103Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A103V (p.Ala103Val) variant details
- p.Ala103Val
- rs1568666713
- ClinGen CA406473026
- ClinVar RCV000702453
- Ensembl rs1568666713
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.83
- MetaLR 0.48
- MetaSVM 0.07
- CADD 23.70
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Pathogenic (in CPVT6)
- UniProt: Pathogenic (in CPVT6)
- Population evidence available
- Structural context available
- Cited in: Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. (PMID 27516456)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)