E15G (p.Glu15Gly) variant of SOX9 (Transcription factor SOX-9)
E15G (p.Glu15Gly) 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, published literature, and structural context.
E15G (p.Glu15Gly) variant details
- p.Glu15Gly
- gnomAD 17-72121435-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.57
- MetaLR 0.87
- MetaSVM 0.86
- CADD 26.00
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available