E36K (p.Glu36Lys) variant of HCN1 (O60741)
E36K (p.Glu36Lys) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- cosmic curated COSV10030
- TOPMed rs1295976476
- gnomAD rs1295976476
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.27
- AlphaMissense 0.10
- MetaLR 0.77
- MetaSVM 0.18
- CADD 14.90
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available