V19L (p.Val19Leu) variant of HCN4 (Q9Y3Q4)
V19L (p.Val19Leu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V19L (p.Val19Leu) variant details
- p.Val19Leu
- rs915677456
- ClinGen CA272700678
- ClinVar RCV003506476
- Ensembl rs915677456
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.30
- MetaLR 0.73
- MetaSVM 0.20
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)