H23Q (p.His23Gln) variant of RAD51D (O75771)
H23Q (p.His23Gln) 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 0.07 / 1. The record also includes population frequency data and structural context.
H23Q (p.His23Gln) variant details
- p.His23Gln
- rs1597878540
- ClinGen CA399092307
- ClinVar RCV002005006
- TOPMed rs1597878540
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0658
- REVEL 0.01
- CADD 9.37
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available