D92N (p.Asp92Asn) variant of HCN4 (Q9Y3Q4)
D92N (p.Asp92Asn) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D92N (p.Asp92Asn) variant details
- p.Asp92Asn
- rs2151228629
- ClinGen CA393098523
- ClinVar RCV002005353
- Ensembl rs2151228629
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.47
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)