A27T (p.Ala27Thr) variant of HCN1 (O60741)
A27T (p.Ala27Thr) 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 0.38 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs1740005870
- ClinGen CA359706788
- ClinVar RCV006465177
- Ensembl rs1740005870
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.29
- AlphaMissense 0.21
- MetaLR 0.72
- MetaSVM 0.03
- CADD 13.10
- PolyPhen-2 0.12
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available