E36Q (p.Glu36Gln) variant of HCN1 (O60741)
E36Q (p.Glu36Gln) 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.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- rs1295976476
- ClinGen CA359706734
- ClinVar RCV006560629
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.19
- AlphaMissense 0.31
- MetaLR 0.81
- MetaSVM 0.23
- CADD 13.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.5e-05)
- Structural context available