E33D (p.Glu33Asp) variant of HCN4 (Q9Y3Q4)
E33D (p.Glu33Asp) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E33D (p.Glu33Asp) variant details
- p.Glu33Asp
- 1000Genomes rs1486991862
- gnomAD rs1486991862
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.21
- MetaLR 0.60
- MetaSVM -0.29
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available