A37V (p.Ala37Val) variant of HCN4 (Q9Y3Q4)
A37V (p.Ala37Val) 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.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- rs2043138879
- ClinGen CA393098999
- ClinVar RCV002676680
- TOPMed rs2043138879
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.20
- MetaLR 0.75
- MetaSVM 0.12
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)