Q14K (p.Gln14Lys) variant of SOX9 (Transcription factor SOX-9)
Q14K (p.Gln14Lys) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Q14K (p.Gln14Lys) variant details
- p.Gln14Lys
- Ensembl rs2143236435
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.59
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.90
- PolyPhen-2 0.90
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available