G72S (p.Gly72Ser) variant of HCN1 (O60741)
G72S (p.Gly72Ser) 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 0.42 / 1. The record also includes population frequency data and structural context.
G72S (p.Gly72Ser) variant details
- p.Gly72Ser
- rs2478644266
- ClinGen CA359706510
- ClinVar RCV006612123
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.31
- AlphaMissense 0.38
- MetaLR 0.57
- MetaSVM -0.00
- CADD 16.20
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available