R27C (p.Arg27Cys) variant of SCN5A (Nav1.5)
R27C (p.Arg27Cys) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- rs746360906
- ClinGen CA056855
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60068
- Uncertain significance
- Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.74
- MetaSVM 0.68
- CADD 26.50
- ClinVar: Uncertain significance (Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance (in BRGDA1 and LQT3)
- UniProt: Uncertain significance (in BRGDA1 and LQT3)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available