G17D (p.Gly17Asp) variant of HCN1 (O60741)
G17D (p.Gly17Asp) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G17D (p.Gly17Asp) variant details
- p.Gly17Asp
- gnomAD rs1740006450
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.33
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available