G17S (p.Gly17Ser) variant of SOX9 (Transcription factor SOX-9)
G17S (p.Gly17Ser) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- gnomAD 17-72121440-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.36
- MetaLR 0.72
- MetaSVM 0.33
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available