L18R (p.Leu18Arg) variant of SOX9 (Transcription factor SOX-9)
L18R (p.Leu18Arg) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- ExAC rs770996719
- TOPMed rs770996719
- gnomAD rs770996719
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.45
- MetaLR 0.89
- MetaSVM 0.87
- CADD 23.60
- PolyPhen-2 0.31
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available