D31N (p.Asp31Asn) variant of HCN4 (Q9Y3Q4)
D31N (p.Asp31Asn) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- rs757500423
- ClinGen CA7649506
- ClinVar RCV002027666
- ClinVar RCV002372817
- Uncertain significance
- Cardiovascular phenotype; not provided; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.33
- MetaLR 0.81
- MetaSVM 0.83
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)