S100P (p.Ser100Pro) variant of HCN1 (O60741)
S100P (p.Ser100Pro) in HCN1 (O60741) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in DEE24. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S100P (p.Ser100Pro) variant details
- p.Ser100Pro
- ExAC rs780364002
- TOPMed rs780364002
- gnomAD rs780364002
- Likely benign
- in DEE24
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.42
- CADD 25.30
- PolyPhen-2 0.86
- SIFT 0.00
- EBI: Likely benign (in DEE24)
- UniProt: Likely benign (in DEE24)
- Population evidence available
- Structural context available