M83I (p.Met83Ile) variant of TBX5 (T-box transcription factor TBX5)
M83I (p.Met83Ile) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aortic valve disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
M83I (p.Met83Ile) variant details
- p.Met83Ile
- rs1871672543
- ClinGen CA386862926
- ClinVar RCV002794922
- Ensembl rs1871672543
- Uncertain significance
- Aortic valve disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.63
- ClinVar: Uncertain significance (Aortic valve disease 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available