G92S (p.Gly92Ser) variant of HCN1 (O60741)
G92S (p.Gly92Ser) 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 0.72 / 1. The record also includes structural context.
G92S (p.Gly92Ser) variant details
- p.Gly92Ser
- rs1413239994
- ClinGen CA359706385
- ClinVar RCV006562218
- NCI-TCGA Cosmic COSV5751
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.71
- MetaLR 0.90
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.22
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available