S79C (p.Ser79Cys) variant of TBX20 (T-box transcription factor TBX20)
S79C (p.Ser79Cys) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
S79C (p.Ser79Cys) variant details
- p.Ser79Cys
- ExAC rs773910992
- TOPMed rs773910992
- gnomAD rs773910992
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.30
- CADD 23.50
- PolyPhen-2 0.11
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available