G31R (p.Gly31Arg) variant of RAD51C (O43502)
G31R (p.Gly31Arg) in RAD51C (O43502) is a missense change. Clinical records from ClinVar 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 0.75 / 1. The record also includes population frequency data and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- ExAC rs747492326
- gnomAD rs747492326
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.69
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 3)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available