R88L (p.Arg88Leu) variant of HCN1 (O60741)
R88L (p.Arg88Leu) 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 0.47 / 1. The record also includes structural context.
R88L (p.Arg88Leu) variant details
- p.Arg88Leu
- rs1173138693
- ClinGen CA359706407
- ClinVar RCV006558149
- TOPMed rs1173138693
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.09
- MetaLR 0.68
- MetaSVM -0.18
- PolyPhen-2 0.20
- SIFT 0.56
- EVE 0.08
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available