G83S (p.Gly83Ser) variant of HCN4 (Q9Y3Q4)
G83S (p.Gly83Ser) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, 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 0.29 / 1. The record also includes population frequency data and structural context.
G83S (p.Gly83Ser) variant details
- p.Gly83Ser
- TOPMed rs2043137577
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.32
- MetaLR 0.65
- MetaSVM -0.19
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available