P22R (p.Pro22Arg) variant of SOX9 (Transcription factor SOX-9)
P22R (p.Pro22Arg) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- ExAC rs760834344
- gnomAD rs760834344
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.54
- MetaLR 0.64
- MetaSVM 0.35
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available