D2Y (p.Asp2Tyr) variant of HCN4 (Q9Y3Q4)
D2Y (p.Asp2Tyr) 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 0.69 / 1. The record also includes population frequency data and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- rs2549080787
- ClinGen CA393099293
- ClinVar RCV002343062
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.60
- MetaLR 0.93
- MetaSVM 1.08
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available