G47R (p.Gly47Arg) variant of HCN1 (O60741)
G47R (p.Gly47Arg) 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 0.36 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- rs2478644562
- ClinGen CA359706671
- ClinVar RCV006562272
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.25
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance (in DEE24)
- UniProt: Uncertain significance (in DEE24)
- Population evidence available
- Structural context available