E25K (p.Glu25Lys) variant of SCN5A (Q14524)
E25K (p.Glu25Lys) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs747251132
- ClinGen CA019786
- cosmic curated COSV60067
- ClinVar RCV000171704
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.76
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available