E36A (p.Glu36Ala) variant of HCN1 (O60741)
E36A (p.Glu36Ala) 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 0.32 / 1. The record also includes population frequency data and structural context.
E36A (p.Glu36Ala) variant details
- p.Glu36Ala
- rs2112109568
- ClinGen CA359706732
- ClinVar RCV006468282
- Ensembl rs2112109568
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.25
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available