P6S (p.Pro6Ser) variant of HCN4 (Q9Y3Q4)
P6S (p.Pro6Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs2549080774
- ClinGen CA393099267
- ClinVar RCV002996881
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.26
- MetaLR 0.67
- MetaSVM -0.04
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.62
- 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)