A74T (p.Ala74Thr) variant of HCN4 (Q9Y3Q4)
A74T (p.Ala74Thr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- rs2549080586
- ClinGen CA393098682
- ClinVar RCV003015677
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.25
- MetaLR 0.69
- MetaSVM -0.15
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.45
- 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)