G93S (p.Gly93Ser) variant of TBX5 (T-box transcription factor TBX5)
G93S (p.Gly93Ser) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Holt-Oram syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G93S (p.Gly93Ser) variant details
- p.Gly93Ser
- ExAC rs770717773
- TOPMed rs770717773
- gnomAD rs770717773
- Uncertain significance
- Holt-Oram syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Holt-Oram syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available