M24V (p.Met24Val) variant of TBX20 (T-box transcription factor TBX20)
M24V (p.Met24Val) 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 Cardiovascular phenotype. 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.
M24V (p.Met24Val) variant details
- p.Met24Val
- rs750946315
- ClinGen CA367265573
- ClinVar RCV002367336
- ExAC rs750946315
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.57
- CADD 22.50
- PolyPhen-2 0.27
- SIFT 0.47
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available