K16R (p.Lys16Arg) variant of SOX9 (Transcription factor SOX-9)
K16R (p.Lys16Arg) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- TOPMed rs1404583942
- gnomAD rs1404583942
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.61
- MetaLR 0.95
- MetaSVM 1.07
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available