S56T (p.Ser56Thr) variant of HCN1 (O60741)
S56T (p.Ser56Thr) 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 0.48 / 1. The record also includes population frequency data and structural context.
S56T (p.Ser56Thr) variant details
- p.Ser56Thr
- rs2478644460
- ClinGen CA359706612
- ClinVar RCV006563446
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.43
- CADD 23.30
- PolyPhen-2 0.27
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available