G38R (p.Gly38Arg) variant of HCN4 (Q9Y3Q4)
G38R (p.Gly38Arg) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- gnomAD rs1269475108
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.33
- MetaLR 0.73
- MetaSVM 0.17
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available