M8T (p.Met8Thr) variant of HCN4 (Q9Y3Q4)
M8T (p.Met8Thr) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
M8T (p.Met8Thr) variant details
- p.Met8Thr
- rs749801134
- ClinGen CA393099254
- ClinVar RCV001939916
- ExAC rs749801134
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.58
- MetaLR 0.87
- MetaSVM 0.79
- CADD 23.40
- PolyPhen-2 0.55
- SIFT 0.01
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.6e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)