S33L (p.Ser33Leu) variant of SOX9 (Transcription factor SOX-9)
S33L (p.Ser33Leu) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S33L (p.Ser33Leu) variant details
- p.Ser33Leu
- cosmic curated COSV55423
- Ensembl rs2143237021
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.52
- MetaLR 0.76
- MetaSVM 0.73
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available