P41S (p.Pro41Ser) variant of TBX20 (T-box transcription factor TBX20)
P41S (p.Pro41Ser) 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 0.59 / 1. The record also includes population frequency data and structural context.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- rs2546999394
- ClinGen CA367265458
- ClinVar RCV003318879
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.47
- CADD 25.10
- PolyPhen-2 0.26
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available