G72D (p.Gly72Asp) variant of HCN1 (O60741)
G72D (p.Gly72Asp) in HCN1 (O60741) is a missense change. 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.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- TOPMed rs1205869080
- gnomAD rs1205869080
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.40
- CADD 16.70
- PolyPhen-2 0.03
- SIFT 0.51
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available