S207L (p.Ser207Leu) variant of RAD51D (O75771)
S207L (p.Ser207Leu) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RAD51D-related cancer predisposition; Breast and/or ovarian cancer; Familial ova. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S207L (p.Ser207Leu) variant details
- p.Ser207Leu
- rs370228071
- ClinGen CA167404
- cosmic curated COSV60005
- ClinVar RCV000130934
- Pathogenic/Likely pathogenic
- RAD51D-related cancer predisposition; Breast and/or ovarian cancer; Familial ova
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.82
- AlphaMissense 0.98
- MetaLR 0.67
- MetaSVM 0.59
- CADD 26.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (RAD51D-related cancer predisposition; Breast and/or ovarian canc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)