R14L (p.Arg14Leu) variant of SCN10A (Q9Y5Y9)
R14L (p.Arg14Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; Episodic pain syndrome, familial, 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- rs141207048
- ClinGen CA2321315
- cosmic curated COSV10147
- ClinVar RCV000476799
- Benign/Likely benign
- Cardiovascular phenotype; Episodic pain syndrome, familial, 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.84
- MetaLR 0.88
- MetaSVM 0.84
- CADD 22.70
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; Episodic pain syndrome, familial, 2; n)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)