K14R (p.Lys14Arg) variant of CALM2 (Calmodulin-2)
K14R (p.Lys14Arg) 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 0.64 / 1. The record also includes population frequency data and structural context.
K14R (p.Lys14Arg) variant details
- p.Lys14Arg
- gnomAD rs1307543946
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.65
- MetaLR 0.68
- MetaSVM 0.48
- CADD 23.00
- PolyPhen-2 0.06
- SIFT 0.41
- ClinVar: Uncertain significance (Long QT syndrome 1)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available