M24L (p.Met24Leu) variant of TBX20 (T-box transcription factor TBX20)
M24L (p.Met24Leu) 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 0.56 / 1. The record also includes population frequency data and structural context.
M24L (p.Met24Leu) variant details
- p.Met24Leu
- rs750946315
- ClinGen CA4217608
- ClinVar RCV001939186
- ExAC rs750946315
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.54
- CADD 23.30
- PolyPhen-2 0.27
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available