T25I (p.Thr25Ile) variant of SOX9 (Transcription factor SOX-9)
T25I (p.Thr25Ile) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- Ensembl rs2143236788
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.36
- MetaLR 0.30
- MetaSVM -0.28
- CADD 26.40
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available