P43L (p.Pro43Leu) variant of HCN4 (Q9Y3Q4)
P43L (p.Pro43Leu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- rs759329385
- ClinGen CA7649500
- ClinVar RCV000232608
- ClinVar RCV002379006
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.28
- MetaLR 0.71
- MetaSVM 0.01
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Brugada syndrome 8)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)