P6S (p.Pro6Ser) variant of SOX9 (Transcription factor SOX-9)
P6S (p.Pro6Ser) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Camptomelic dysplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- rs866679165
- ClinGen CA293780901
- ClinVar RCV002627868
- ClinVar RCV002627869
- Conflicting interpretations
- Inborn genetic diseases; not provided; Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.65
- MetaLR 0.94
- MetaSVM 1.10
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Camptomelic dysplasia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.0019)
- Structural context available
- Cited in: Campomelic Dysplasia. (PMID 20301724)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)