N90K (p.Asn90Lys) variant of HCN4 (Q9Y3Q4)
N90K (p.Asn90Lys) 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; 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.
N90K (p.Asn90Lys) variant details
- p.Asn90Lys
- rs2043137309
- ClinGen CA393098532
- ClinVar RCV004118635
- ClinVar RCV005099677
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.49
- MetaLR 0.93
- MetaSVM 1.00
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)