G20A (p.Gly20Ala) variant of SOX9 (Transcription factor SOX-9)
G20A (p.Gly20Ala) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- rs1276160255
- ClinGen CA400865427
- ClinVar RCV001337649
- gnomAD rs1276160255
- Uncertain significance
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.39
- MetaLR 0.78
- MetaSVM 0.24
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Camptomelic dysplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)