S70L (p.Ser70Leu) variant of HCN4 (Q9Y3Q4)
S70L (p.Ser70Leu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S70L (p.Ser70Leu) variant details
- p.Ser70Leu
- rs771533338
- ClinGen CA7649495
- ClinVar RCV000533863
- ClinVar RCV004024149
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- MetaLR 0.77
- MetaSVM 0.50
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)