K3T (p.Lys3Thr) variant of HCN4 (Q9Y3Q4)
K3T (p.Lys3Thr) 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; Cardiovascular phenotype. 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.
K3T (p.Lys3Thr) variant details
- p.Lys3Thr
- rs1267513363
- ClinGen CA393099284
- ClinVar RCV001954879
- ClinVar RCV005350761
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.38
- MetaLR 0.77
- MetaSVM 0.31
- CADD 23.40
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)