G2C (p.Gly2Cys) variant of RAD51D (O75771)
G2C (p.Gly2Cys) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Breast-ovarian cancer, familial, susceptibility to, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G2C (p.Gly2Cys) variant details
- p.Gly2Cys
- rs372082751
- ClinGen CA8499711
- ClinVar RCV000483125
- ClinVar RCV001055029
- Uncertain significance
- not provided; Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.15
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Breast-ovarian cancer, familial, susceptibility to)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available