S79F (p.Ser79Phe) variant of TBX20 (T-box transcription factor TBX20)
S79F (p.Ser79Phe) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S79F (p.Ser79Phe) variant details
- p.Ser79Phe
- rs773910992
- ClinGen CA367265199
- ClinVar RCV003548361
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.27
- CADD 23.70
- PolyPhen-2 0.09
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available