M8V (p.Met8Val) variant of HCN4 (Q9Y3Q4)
M8V (p.Met8Val) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
M8V (p.Met8Val) variant details
- p.Met8Val
- rs1595837779
- ClinGen CA393099257
- ClinVar RCV002637090
- Ensembl rs1595837779
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.39
- MetaLR 0.84
- MetaSVM 0.61
- CADD 22.90
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)