P22S (p.Pro22Ser) variant of SOX9 (Transcription factor SOX-9)
P22S (p.Pro22Ser) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Camptomelic dysplasia. 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.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- gnomAD rs1019580760
- Likely benign
- Camptomelic dysplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.43
- MetaLR 0.53
- MetaSVM -0.06
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Camptomelic dysplasia)
- UniProt: Likely benign
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available