M10T (p.Met10Thr) variant of SOX9 (Transcription factor SOX-9)
M10T (p.Met10Thr) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M10T (p.Met10Thr) variant details
- p.Met10Thr
- Ensembl rs2143236306
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.83
- MetaLR 0.95
- MetaSVM 1.09
- CADD 27.10
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available