Y162D (p.Tyr162Asp) variant of SCN5A (Q14524)
Y162D (p.Tyr162Asp) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SUDDEN INFANT DEATH SYNDROME; Sick sinus syndrome 1; Brugada syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y162D (p.Tyr162Asp) variant details
- p.Tyr162Asp
- rs765865175
- ClinGen CA352154045
- ClinVar RCV004016008
- ClinVar RCV005038645
- Uncertain significance
- SUDDEN INFANT DEATH SYNDROME; Sick sinus syndrome 1; Brugada syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.97
- AlphaMissense 0.07
- MetaLR 0.79
- MetaSVM -0.04
- CADD 32.00
- PolyPhen-2 0.03
- ClinVar: Uncertain significance (SUDDEN INFANT DEATH SYNDROME; Sick sinus syndrome 1; Brugada syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)