A84V (p.Ala84Val) variant of HCN4 (Q9Y3Q4)
A84V (p.Ala84Val) 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.
A84V (p.Ala84Val) variant details
- p.Ala84Val
- rs2151228645
- ClinGen CA393098588
- ClinVar RCV001870620
- Ensembl rs2151228645
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.23
- MetaLR 0.71
- MetaSVM -0.10
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.11
- 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)