V23G (p.Val23Gly) variant of RAD51C (O43502)
V23G (p.Val23Gly) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
V23G (p.Val23Gly) variant details
- p.Val23Gly
- rs2047807604
- ClinGen CA400336883
- ClinVar RCV001030583
- Ensembl rs2047807604
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.22
- MetaLR 0.13
- MetaSVM -0.93
- PolyPhen-2 0.61
- SIFT 0.22
- EVE 0.26
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)