G44W (p.Gly44Trp) variant of HCN1 (O60741)
G44W (p.Gly44Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G44W (p.Gly44Trp) variant details
- p.Gly44Trp
- rs1421975269
- ClinGen CA359706687
- ClinVar RCV003237659
- ClinVar RCV006557702
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.36
- AlphaMissense 0.07
- MetaLR 0.72
- MetaSVM -0.28
- CADD 23.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available