E75Q (p.Glu75Gln) variant of HCN1 (O60741)
E75Q (p.Glu75Gln) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E75Q (p.Glu75Gln) variant details
- p.Glu75Gln
- rs1374925949
- ClinGen CA359706493
- ClinVar RCV002274573
- gnomAD rs1374925949
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.27
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available