G49S (p.Gly49Ser) variant of HCN1 (O60741)
G49S (p.Gly49Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- rs1214766208
- ClinGen CA359706659
- cosmic curated COSV10030
- ClinVar RCV006560573
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.24
- AlphaMissense 0.19
- MetaLR 0.78
- MetaSVM 0.41
- CADD 15.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-06)
- Structural context available