M74V (p.Met74Val) variant of TBX5 (T-box transcription factor TBX5)
M74V (p.Met74Val) in TBX5 (T-box transcription factor TBX5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
M74V (p.Met74Val) variant details
- p.Met74Val
- rs1555226577
- Ensembl rs1555226577
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.85
- PolyPhen-2 0.65
- SIFT 0.00
- EVE 0.64
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available