R45L (p.Arg45Leu) variant of HCN4 (Q9Y3Q4)
R45L (p.Arg45Leu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome 8; Sick sinus syndrome 2, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R45L (p.Arg45Leu) variant details
- p.Arg45Leu
- rs1416460262
- ClinGen CA393098915
- ClinVar RCV000557330
- ClinVar RCV002491073
- Uncertain significance
- not provided; Brugada syndrome 8; Sick sinus syndrome 2, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.57
- MetaLR 0.88
- MetaSVM 0.88
- CADD 25.30
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Brugada syndrome 8; Sick sinus syndrome 2, autosom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)