M26V (p.Met26Val) variant of HCN4 (Q9Y3Q4)
M26V (p.Met26Val) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
M26V (p.Met26Val) variant details
- p.Met26Val
- rs1172106722
- ClinGen CA393099114
- ClinVar RCV003121312
- ClinVar RCV003396893
- Uncertain significance
- not specified; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.24
- MetaLR 0.78
- MetaSVM 0.36
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)