M24I (p.Met24Ile) variant of TBX20 (T-box transcription factor TBX20)
M24I (p.Met24Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M24I (p.Met24Ile) variant details
- p.Met24Ile
- rs150700395
- ClinGen CA4217607
- ClinVar RCV000618709
- ClinVar RCV001855266
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.54
- CADD 22.20
- PolyPhen-2 0.38
- SIFT 0.83
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available