E85D (p.Glu85Asp) variant of HCN1 (O60741)
E85D (p.Glu85Asp) 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 0.32 / 1. The record also includes population frequency data and structural context.
E85D (p.Glu85Asp) variant details
- p.Glu85Asp
- rs868228427
- ClinGen CA10605797
- cosmic curated COSV57531
- ClinVar RCV000288763
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.29
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance (in GEFSP10)
- UniProt: Uncertain significance (in GEFSP10)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available