E75K (p.Glu75Lys) variant of HCN1 (O60741)
E75K (p.Glu75Lys) in HCN1 (O60741) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- rs1374925949
- gnomAD rs1374925949
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.30
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available