R14Q (p.Arg14Gln) variant of HCN1 (O60741)
R14Q (p.Arg14Gln) in HCN1 (O60741) is a missense change. 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.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- TOPMed rs1252734883
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.28
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.6e-05)
- Structural context available