G7R (p.Gly7Arg) variant of RAD51D (O75771)
G7R (p.Gly7Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs1064795913
- ClinGen CA16620395
- ClinVar RCV000478762
- ClinVar RCV000816357
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.26
- CADD 25.50
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available