S80C (p.Ser80Cys) variant of STAT2 (P52630)
S80C (p.Ser80Cys) in STAT2 (P52630) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
S80C (p.Ser80Cys) variant details
- p.Ser80Cys
- ExAC rs759097133
- TOPMed rs759097133
- gnomAD rs759097133
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0447
- REVEL 0.04
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available