M83L (p.Met83Leu) variant of TBX5 (T-box transcription factor TBX5)
M83L (p.Met83Leu) in TBX5 (T-box transcription factor TBX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
M83L (p.Met83Leu) variant details
- p.Met83Leu
- cosmic curated COSV59861
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.90
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available