A23T (p.Ala23Thr) variant of HCN4 (Q9Y3Q4)
A23T (p.Ala23Thr) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs868045953
- ClinGen CA393099145
- ClinVar RCV000678925
- Ensembl rs868045953
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.40
- MetaLR 0.88
- MetaSVM 0.92
- CADD 23.50
- PolyPhen-2 0.43
- 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)