G39C (p.Gly39Cys) variant of HCN4 (Q9Y3Q4)
G39C (p.Gly39Cys) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- gnomAD rs1338572189
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.35
- MetaLR 0.74
- MetaSVM 0.16
- CADD 22.70
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available