Y13C (p.Tyr13Cys) variant of HCN4 (Q9Y3Q4)
Y13C (p.Tyr13Cys) 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.
Y13C (p.Tyr13Cys) variant details
- p.Tyr13Cys
- Ensembl rs2043139583
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.69
- MetaLR 0.94
- MetaSVM 1.05
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available