R88Q (p.Arg88Gln) variant of HCN1 (O60741)
R88Q (p.Arg88Gln) 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 0.40 / 1. The record also includes population frequency data and structural context.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- TOPMed rs1173138693
- gnomAD rs1173138693
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.26
- AlphaMissense 0.09
- MetaLR 0.68
- MetaSVM -0.18
- CADD 20.50
- PolyPhen-2 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available