G11R (p.Gly11Arg) variant of RAD51D (O75771)
G11R (p.Gly11Arg) 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; Breast-ovarian cancer, familial, suscep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs776471760
- ClinGen CA399092509
- ClinVar RCV000569445
- ClinVar RCV001042046
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, familial, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.28
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast-ovarian cancer,)
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)