Q14E (p.Gln14Glu) variant of SOX9 (Transcription factor SOX-9)
Q14E (p.Gln14Glu) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Q14E (p.Gln14Glu) variant details
- p.Gln14Glu
- Ensembl rs2143236435
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.52
- MetaLR 0.94
- MetaSVM 1.06
- CADD 23.80
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available