A21T (p.Ala21Thr) variant of SOX9 (Transcription factor SOX-9)
A21T (p.Ala21Thr) 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 Prostate cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs193920972
- ClinGen CA174087
- cosmic curated COSV55426
- ClinVar RCV000148999
- Uncertain significance
- Prostate cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.61
- MetaLR 0.94
- MetaSVM 1.06
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Prostate cancer)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)