G31W (p.Gly31Trp) variant of HCN1 (O60741)
G31W (p.Gly31Trp) 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 0.47 / 1. The record also includes population frequency data and structural context.
G31W (p.Gly31Trp) variant details
- p.Gly31Trp
- rs2112109649
- ClinGen CA359706762
- ClinVar RCV006468808
- Ensembl rs2112109649
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.34
- AlphaMissense 0.14
- MetaLR 0.74
- MetaSVM 0.06
- CADD 17.30
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available