R222Q (p.Arg222Gln) variant of SCN5A (Nav1.5)
R222Q (p.Arg222Gln) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Progressive familial heart block, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R222Q (p.Arg222Gln) variant details
- p.Arg222Gln
- rs45546039
- ClinGen CA019704
- cosmic curated COSV10465
- ClinVar RCV000032639
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Progressive familial heart block, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.98
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Progressive familial hea)
- EBI: Pathogenic (in BRGDA1 and LQT3)
- UniProt: Pathogenic (in BRGDA1 and LQT3)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or… (PMID 19412328)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)