K16K (p.Lys16Lys) variant of SOX9 (Transcription factor SOX-9)
K16K (p.Lys16Lys) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K16K (p.Lys16Lys) variant details
- p.Lys16Lys
- rs1412757423
- gnomAD 17-72121439-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 14.30
- Most common in the Latino/Admixed American population (allele frequency 0.00022)
- Structural context available
- Literature evidence available