M26R (p.Met26Arg) variant of SOX9 (Transcription factor SOX-9)
M26R (p.Met26Arg) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
M26R (p.Met26Arg) variant details
- p.Met26Arg
- gnomAD 17-72121468-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.62
- MetaLR 0.51
- MetaSVM 0.04
- CADD 25.00
- PolyPhen-2 0.38
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available