P75R (p.Pro75Arg) variant of TBX20 (T-box transcription factor TBX20)
P75R (p.Pro75Arg) 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 0.39 / 1. The record also includes population frequency data and structural context.
P75R (p.Pro75Arg) variant details
- p.Pro75Arg
- 1000Genomes rs540565352
- ExAC rs540565352
- TOPMed rs540565352
- gnomAD rs540565352
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.27
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available