R96K (p.Arg96Lys) variant of HCN1 (O60741)
R96K (p.Arg96Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
R96K (p.Arg96Lys) variant details
- p.Arg96Lys
- rs1739997160
- ClinGen CA359706357
- ClinVar RCV003135528
- TOPMed rs1739997160
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.30
- MetaLR 0.80
- MetaSVM 0.37
- PolyPhen-2 0.24
- SIFT 0.07
- EVE 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available