M10I (p.Met10Ile) variant of SOX9 (Transcription factor SOX-9)
M10I (p.Met10Ile) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
M10I (p.Met10Ile) variant details
- p.Met10Ile
- Ensembl rs2143236315
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.83
- MetaLR 0.95
- MetaSVM 1.11
- CADD 27.30
- PolyPhen-2 0.84
- SIFT 0.00
- Population evidence available
- Structural context available