T6S (p.Thr6Ser) variant of CALM2 (Calmodulin-2)
T6S (p.Thr6Ser) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
T6S (p.Thr6Ser) variant details
- p.Thr6Ser
- gnomAD rs1439126449
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.16
- MetaLR 0.21
- MetaSVM -0.67
- CADD 25.40
- PolyPhen-2 0.01
- SIFT 0.98
- ClinVar: Uncertain significance (Long QT syndrome 1)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available