E85K (p.Glu85Lys) variant of HCN1 (O60741)
E85K (p.Glu85Lys) in HCN1 (O60741) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in GEFSP10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
E85K (p.Glu85Lys) variant details
- p.Glu85Lys
- cosmic curated COSV10514
- gnomAD rs1739998877
- Uncertain significance
- in GEFSP10
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.34
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.60
- CADD 22.40
- PolyPhen-2 0.88
- EBI: uncertain significance (in GEFSP10)
- UniProt: Uncertain significance (in GEFSP10)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available