M1L (p.Met1Leu) variant of RAD51D (O75771)
M1L (p.Met1Leu) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 4. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs561425038
- ClinGen CA16620397
- ClinVar RCV000484387
- ClinVar RCV000558858
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)