T65M (p.Thr65Met) variant of HCN4 (Q9Y3Q4)
T65M (p.Thr65Met) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T65M (p.Thr65Met) variant details
- p.Thr65Met
- rs760387977
- ClinGen CA7649497
- ClinVar RCV001892519
- ExAC rs760387977
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.27
- MetaLR 0.66
- MetaSVM 0.03
- CADD 12.40
- PolyPhen-2 0.14
- 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 0.00013)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)