S19R (p.Ser19Arg) variant of HCN1 (O60741)
S19R (p.Ser19Arg) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 24. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- gnomAD rs1237981237
- Uncertain significance
- Developmental and epileptic encephalopathy, 24
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.16
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM -0.25
- CADD 22.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 24)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available