G79A (p.Gly79Ala) variant of HCN4 (Q9Y3Q4)
G79A (p.Gly79Ala) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G79A (p.Gly79Ala) variant details
- p.Gly79Ala
- rs1555479039
- ClinGen CA393098629
- ClinVar RCV000522606
- Ensembl rs1555479039
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.21
- MetaLR 0.68
- MetaSVM -0.14
- CADD 9.45
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available