P51T (p.Pro51Thr) variant of SCN10A (Q9Y5Y9)
P51T (p.Pro51Thr) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P51T (p.Pro51Thr) variant details
- p.Pro51Thr
- rs368312678
- ClinGen CA352162946
- ClinVar RCV001771525
- ClinVar RCV001868622
- Uncertain significance
- not provided; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.28
- MetaLR 0.84
- MetaSVM 0.23
- CADD 1.91
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)