P6L (p.Pro6Leu) variant of HCN4 (Q9Y3Q4)
P6L (p.Pro6Leu) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs772656493
- ClinGen CA7649512
- ClinVar RCV001984636
- ExAC rs772656493
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.47
- MetaLR 0.75
- MetaSVM 0.60
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)