S49L (p.Ser49Leu) variant of TBX20 (T-box transcription factor TBX20)
S49L (p.Ser49Leu) in TBX20 (T-box transcription factor TBX20) is a missense change. Clinical records from ClinVar 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 0.54 / 1. The record also includes population frequency data and structural context.
S49L (p.Ser49Leu) variant details
- p.Ser49Leu
- ExAC rs778353825
- TOPMed rs778353825
- gnomAD rs778353825
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.39
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available