T27I (p.Thr27Ile) variant of RAD51D (O75771)
T27I (p.Thr27Ile) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- rs139642328
- ClinGen CA399092243
- ClinVar RCV000571331
- ClinVar RCV000649675
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Breast-ovarian cancer, fa
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.37
- CADD 33.00
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Breast-ov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)