R8Q (p.Arg8Gln) variant of SCN5A (Q14524)
R8Q (p.Arg8Gln) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs564261427
- ClinGen CA056648
- cosmic curated COSV10964
- ClinVar RCV000619935
- Uncertain significance
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.45
- CADD 22.30
- PolyPhen-2 0.45
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available