K9K (p.Lys9Lys) variant of SOX9 (Transcription factor SOX-9)
K9K (p.Lys9Lys) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K9K (p.Lys9Lys) variant details
- p.Lys9Lys
- rs747794183
- gnomAD 17-72121418-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 14.20
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available