A32V (p.Ala32Val) variant of HCN4 (Q9Y3Q4)
A32V (p.Ala32Val) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs2043139122
- ClinGen CA393099047
- ClinVar RCV003614355
- TOPMed rs2043139122
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.21
- MetaLR 0.76
- MetaSVM 0.11
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.02
- 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)