M8I (p.Met8Ile) variant of SOX9 (Transcription factor SOX-9)
M8I (p.Met8Ile) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Camptomelic dysplasia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
M8I (p.Met8Ile) variant details
- p.Met8Ile
- TOPMed rs1452893426
- gnomAD rs1452893426
- Uncertain significance
- Camptomelic dysplasia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.41
- MetaLR 0.84
- MetaSVM 0.68
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Camptomelic dysplasia; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available