P6A (p.Pro6Ala) variant of SOX9 (Transcription factor SOX-9)
P6A (p.Pro6Ala) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- TOPMed rs866679165
- gnomAD rs866679165
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.78
- MetaLR 0.96
- MetaSVM 1.11
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available