H53P (p.His53Pro) variant of HCN1 (O60741)
H53P (p.His53Pro) 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 0.52 / 1. The record also includes population frequency data and structural context.
H53P (p.His53Pro) variant details
- p.His53Pro
- rs1554040137
- ClinGen CA359706628
- ClinVar RCV006607366
- gnomAD rs1554040137
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.08
- MetaLR 0.72
- MetaSVM -0.10
- PolyPhen-2 0.00
- SIFT 0.17
- MutPred 0.14
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available