M26T (p.Met26Thr) variant of HCN4 (Q9Y3Q4)
M26T (p.Met26Thr) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M26T (p.Met26Thr) variant details
- p.Met26Thr
- rs2549080723
- ClinGen CA393099110
- ClinVar RCV003615261
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.40
- MetaLR 0.78
- MetaSVM 0.51
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)