A84T (p.Ala84Thr) variant of HCN4 (Q9Y3Q4)
A84T (p.Ala84Thr) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A84T (p.Ala84Thr) variant details
- p.Ala84Thr
- rs1266912247
- ClinGen CA393098595
- ClinVar RCV003384155
- TOPMed rs1266912247
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.23
- MetaLR 0.66
- MetaSVM -0.17
- CADD 9.77
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available