M8R (p.Met8Arg) variant of HCN4 (Q9Y3Q4)
M8R (p.Met8Arg) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M8R (p.Met8Arg) variant details
- p.Met8Arg
- rs749801134
- ClinGen CA7649510
- ClinVar RCV001942923
- ClinVar RCV003382714
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.63
- MetaLR 0.87
- MetaSVM 0.79
- CADD 23.90
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.3e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)