T132P (p.Thr132Pro) variant of RAD51C (O43502)
T132P (p.Thr132Pro) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary breast ovarian cancer syndrome; Familial ovarian carcinoma; Breast-ov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
T132P (p.Thr132Pro) variant details
- p.Thr132Pro
- rs2047959481
- ClinGen CA400342010
- ClinVar RCV001291630
- ClinVar RCV003482162
- Likely pathogenic
- Hereditary breast ovarian cancer syndrome; Familial ovarian carcinoma; Breast-ov
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.57
- MetaLR 0.53
- MetaSVM 0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Likely pathogenic (Hereditary breast ovarian cancer syndrome; Familial ovarian carc)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)