Q97R (p.Gln97Arg) variant of HCN1 (O60741)
Q97R (p.Gln97Arg) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Q97R (p.Gln97Arg) variant details
- p.Gln97Arg
- rs1580055035
- ClinGen CA359706348
- ClinVar RCV000998381
- ClinVar RCV006464942
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.70
- CADD 26.40
- PolyPhen-2 0.55
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available