Y13H (p.Tyr13His) variant of HCN4 (Q9Y3Q4)
Y13H (p.Tyr13His) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Y13H (p.Tyr13His) variant details
- p.Tyr13His
- gnomAD rs1438584059
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.58
- MetaLR 0.94
- MetaSVM 1.07
- CADD 25.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.7e-06)
- Structural context available