R91C (p.Arg91Cys) variant of CALM2 (Calmodulin-2)
R91C (p.Arg91Cys) 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 0.70 / 1. The record also includes population frequency data and structural context.
R91C (p.Arg91Cys) variant details
- p.Arg91Cys
- cosmic curated COSV99700
- Ensembl rs1687185440
- cosmic curated COSV52194
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.66
- MetaLR 0.74
- MetaSVM 0.58
- CADD 24.50
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Uncertain significance (Long QT syndrome 1)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available