L18P (p.Leu18Pro) variant of SOX9 (Transcription factor SOX-9)
L18P (p.Leu18Pro) 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 Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- rs770996719
- ClinGen CA400865417
- ClinVar RCV003605100
- ExAC rs770996719
- Uncertain significance
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.50
- MetaLR 0.90
- MetaSVM 0.90
- CADD 27.90
- PolyPhen-2 0.48
- SIFT 0.00
- ClinVar: Uncertain significance (Camptomelic dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)