P16L (p.Pro16Leu) variant of HCN4 (Q9Y3Q4)
P16L (p.Pro16Leu) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs2043139529
- ClinGen CA393099199
- ClinVar RCV001204912
- ClinVar RCV002339516
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.76
- MetaLR 0.95
- MetaSVM 1.08
- CADD 26.60
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)