A30E (p.Ala30Glu) variant of RAD51C (O43502)
A30E (p.Ala30Glu) in RAD51C (O43502) 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, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- rs1000113630
- ClinGen CA400337141
- ClinVar RCV001779187
- TOPMed rs1000113630
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.44
- MetaLR 0.24
- MetaSVM -0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available