G83D (p.Gly83Asp) variant of HCN4 (Q9Y3Q4)
G83D (p.Gly83Asp) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G83D (p.Gly83Asp) variant details
- p.Gly83Asp
- ExAC rs770361300
- gnomAD rs770361300
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.21
- MetaLR 0.72
- MetaSVM 0.00
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available