S49T (p.Ser49Thr) variant of ID3 (Q02535)
S49T (p.Ser49Thr) in ID3 (Q02535) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S49T (p.Ser49Thr) variant details
- p.Ser49Thr
- rs146163818
- ClinGen CA683659
- ClinVar RCV001374523
- 1000Genomes rs146163818
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.81
- MetaLR 0.93
- MetaSVM 1.05
- CADD 25.00
- PolyPhen-2 0.92
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)