G80C (p.Gly80Cys) variant of HCN1 (O60741)
G80C (p.Gly80Cys) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G80C (p.Gly80Cys) variant details
- p.Gly80Cys
- rs754990881
- ClinGen CA359706460
- cosmic curated COSV10030
- ClinVar RCV006465929
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.34
- CADD 19.80
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available