G92C (p.Gly92Cys) variant of HCN1 (O60741)
G92C (p.Gly92Cys) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
G92C (p.Gly92Cys) variant details
- p.Gly92Cys
- TOPMed rs1413239994
- gnomAD rs1413239994
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.73
- AlphaMissense 0.71
- MetaLR 0.90
- MetaSVM 1.04
- CADD 27.60
- PolyPhen-2 1.00
- Population evidence available
- Structural context available