S13C (p.Ser13Cys) variant of HCN1 (O60741)
S13C (p.Ser13Cys) 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 0.34 / 1. The record also includes population frequency data and structural context.
S13C (p.Ser13Cys) variant details
- p.Ser13Cys
- rs1740006768
- ClinGen CA359706882
- ClinVar RCV006560443
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.34
- CADD 21.50
- PolyPhen-2 0.22
- SIFT 0.15
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available