R89Q (p.Arg89Gln) variant of HCN1 (O60741)
R89Q (p.Arg89Gln) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R89Q (p.Arg89Gln) variant details
- p.Arg89Gln
- rs1739997928
- ClinGen CA359706403
- cosmic curated COSV10030
- ClinVar RCV006464728
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.29
- CADD 20.30
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available